chr5:112175211:T>A Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,175,211-112,175,211
hg38 chr5:112,839,514-112,839,514 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.3920T>A NP_000029.2:p.Ile1307Lys
NM_001127511.2:c.3866T>A NP_001120983.2:p.Ile1289Lys
NM_001127510.2:c.3920T>A NP_001120982.1:p.Ile1307Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; association; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM26697 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2019-04-01 no assertion criteria provided Adenomatous polyposis coli, susceptibility to unknown Detail
risk factor 2003-12-01 no assertion criteria provided Breast cancer, susceptibility to unknown Detail
Conflicting interpretations of pathogenicity; risk factor 2023-07-07 criteria provided, conflicting interpretations familial adenomatous polyposis 1 maternal germline inherited unknown Detail
Conflicting interpretations of pathogenicity; risk factor 2024-02-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic Likely pathogenic Established risk allele; risk factor 2024-01-25 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2024-02-06 criteria provided, conflicting interpretations not specified germline Detail
risk factor 2015-11-20 criteria provided, single submitter Colorectal cancer, susceptibility to germline Detail
Uncertain significance 2018-06-01 criteria provided, multiple submitters, no conflicts Familial multiple polyposis syndrome germline unknown Detail
risk factor 2017-01-01 criteria provided, single submitter Carcinoma of colon germline Detail
risk factor 2020-03-04 criteria provided, single submitter colorectal cancer germline unknown Detail
not provided no assertion provided APC-Associated Polyposis Disorders unknown Detail
Uncertain significance 2021-08-09 no assertion criteria provided breast carcinoma germline Detail
not provided no assertion provided Familial colorectal cancer unknown Detail
association 2024-01-31 criteria provided, single submitter familial adenomatous polyposis 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.120 Polyposis, Adenomatous Intestinal NA CLINVAR Detail
0.076 colorectal carcinoma The reported association between the APC I1307K mutation and colon cancer risk w... BeFree 10756345 Detail
0.076 colorectal carcinoma To this end, sequence analysis was carried out of the APC gene in order to ident... BeFree 11267860 Detail
0.014 Multiple polyps I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.777 Adenomatous Polyposis Coli These findings support a model where somatic instability of the (A)8 tract produ... BeFree 9751605 Detail
0.240 colorectal cancer The I1307K adenomatous polyposis coli gene variant does not contribute in the as... BeFree 14578136 Detail
0.009 breast carcinoma The effect of the I1307K APC polymorphism on the clinicopathological features an... BeFree 10555757 Detail
0.076 colorectal carcinoma The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenaz... BeFree 10938175 Detail
0.014 Multiple polyps I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.022 polyps After adjustment for age, APC I1307K carriers were significantly more likely tha... BeFree 16228836 Detail
0.240 colorectal cancer The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent)... BeFree 16228836 Detail
0.240 colorectal cancer A missense mutation within the APC gene, I1307K, was described in Ashkenazi indi... BeFree 11551102 Detail
0.123 Inflammatory Bowel Diseases Carrier rate of APC I1307K is not increased in inflammatory bowel disease patien... BeFree 11354631 Detail
0.076 colorectal carcinoma Lack of an increased APC I1307K carrier rate suggests that this mutation does no... BeFree 11354631 Detail
0.004 Hyperplastic Polyp The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patient... BeFree 10938175 Detail
0.076 colorectal carcinoma An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenaz... BeFree 9679945 Detail
0.082 colorectal carcinoma I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.076 colorectal carcinoma Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic or... BeFree 9869602 Detail
0.240 colorectal cancer Here, we used this design to evaluate inherited susceptibility to prostate cance... BeFree 16537703 Detail
0.240 colorectal cancer The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenaz... BeFree 10938175 Detail
0.076 colorectal carcinoma This study seeks to determine whether there is any association of the I1307K, E1... BeFree 18343606 Detail
0.092 Malignant neoplasm of breast The APC gene I1307K variant is rare in Norwegian patients with familial and spor... BeFree 9679946 Detail
0.240 colorectal cancer The I1307K polymorphism of the APC gene in colorectal cancer. BeFree 9869603 Detail
0.127 Adenomatous Polyps The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patient... BeFree 10938175 Detail
0.240 colorectal cancer The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical a... BeFree 16875934 Detail
0.232 Colonic Neoplasms From this descriptive study, it seems that the short-term risk for colonic polyp... BeFree 15733272 Detail
0.191 adenoma It is therefore possible that many APC I1307K carriers with multiple adenomas ha... BeFree 12533824 Detail
0.241 Colorectal Neoplasms The APC variants I1307K and E1317Q are associated with colorectal tumors, but no... BeFree 9724771 Detail
0.139 Adenoma of large intestine The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcino... BeFree 15266213 Detail
0.076 colorectal carcinoma We conclude that the APC I1307K variant leads to increased adenoma formation and... BeFree 9973276 Detail
0.076 colorectal carcinoma APC I1307K increases risk of transition from polyp to colorectal carcinoma in As... BeFree 11159880 Detail
0.240 colorectal cancer Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic or... BeFree 9869602 Detail
0.082 Malignant neoplasm of ovary No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Je... BeFree 9679945 Detail
0.004 prostate carcinoma APC I1307K and the risk of prostate cancer. BeFree 16537703 Detail
0.240 colorectal cancer This study seeks to determine whether there is any association of the I1307K, E1... BeFree 18343606 Detail
0.002 esophageal carcinoma The I1307K sequence variant was not found in 67 patients with esophageal cancer,... BeFree 10445854 Detail
0.076 colorectal carcinoma Here, we used this design to evaluate inherited susceptibility to prostate cance... BeFree 16537703 Detail
0.008 Hereditary Nonpolyposis Colorectal Cancer In addition, the rate of the I1307K APC missense mutation and the two predominan... BeFree 15929773 Detail
0.240 colorectal cancer The I1307K allele of the APC gene has been shown to confer a modestly elevated r... BeFree 11159880 Detail
0.006 Polyp of large intestine Phenotypic characteristics associated with the APC gene I1307K mutation in Ashke... BeFree 10938175 Detail
0.002 ovarian carcinoma Association of the I1307K APC mutation with hereditary and sporadic breast/ovari... BeFree 10901363 Detail
0.076 colorectal carcinoma The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent)... BeFree 16228836 Detail
0.240 colorectal cancer This excess can partially be attributed to inherited factors that are over repre... BeFree 16195945 Detail
0.076 colorectal carcinoma The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increa... BeFree 15516844 Detail
0.240 colorectal cancer Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca... BeFree 15929773 Detail
0.076 colorectal carcinoma I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.191 adenoma Recently, however, a missense variant of APC (I1307K) was described that confers... BeFree 9724771 Detail
0.240 colorectal cancer The reported association between the APC I1307K mutation and colon cancer risk w... BeFree 10756345 Detail
0.076 colorectal carcinoma A missense mutation in APC (I1307K) is associated with some familial colorectal ... BeFree 10630180 Detail
0.240 colorectal cancer An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was rece... BeFree 10343885 Detail
0.191 adenoma We conclude that the APC I1307K variant leads to increased adenoma formation and... BeFree 9973276 Detail
0.092 Malignant neoplasm of breast The effect of the I1307K APC polymorphism on the clinicopathological features an... BeFree 10555757 Detail
0.123 Inflammatory Bowel Diseases Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with... BeFree 10445854 Detail
0.146 colon carcinoma We have shown that the family's phenotype does not result from APC mutations (in... BeFree 10092300 Detail
0.240 colorectal cancer The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashke... BeFree 9407954 Detail
0.146 colon carcinoma Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers com... BeFree 12822869 Detail
0.191 adenoma The prevalence of polyps and adenomas in specimens of colorectal cancer who are ... BeFree 16228836 Detail
0.240 colorectal cancer A missense mutation in APC (I1307K) is associated with some familial colorectal ... BeFree 10630180 Detail
0.240 colorectal cancer I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.240 colorectal cancer In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are... BeFree 12822869 Detail
0.022 polyps APC I1307K increases risk of transition from polyp to colorectal carcinoma in As... BeFree 11159880 Detail
0.076 colorectal carcinoma The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical a... BeFree 16875934 Detail
0.030 Malignant tumor of colon Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers com... BeFree 12822869 Detail
0.076 colorectal carcinoma The I1307K polymorphism in APC has been found to predispose to colorectal cancer... BeFree 10555757 Detail
0.127 Adenomatous Polyps Among the genetic defects associated with CRC, the APC I1307K mutation has been ... BeFree 11354631 Detail
0.146 colon carcinoma The reported association between the APC I1307K mutation and colon cancer risk w... BeFree 10756345 Detail
0.002 ovarian carcinoma No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Je... BeFree 9679945 Detail
0.240 colorectal cancer Lack of an increased APC I1307K carrier rate suggests that this mutation does no... BeFree 11354631 Detail
0.240 colorectal cancer How the I1307K adenomatous polyposis coli gene variant contributes in the assess... BeFree 17854661 Detail
0.241 Colorectal Neoplasms These findings support a model where somatic instability of the (A)8 tract produ... BeFree 9751605 Detail
0.160 colorectal cancer I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polypo... BeFree 9831355 Detail
0.082 Malignant neoplasm of ovary Association of the I1307K APC mutation with hereditary and sporadic breast/ovari... BeFree 10901363 Detail
0.240 colorectal cancer Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation... BeFree 11720476 Detail
0.240 colorectal cancer We conclude that the APC I1307K variant leads to increased adenoma formation and... BeFree 9973276 Detail
0.076 colorectal carcinoma In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are... BeFree 12822869 Detail
0.076 colorectal carcinoma A missense mutation within the APC gene, I1307K, was described in Ashkenazi indi... BeFree 11551102 Detail
0.002 Malignant neoplasm of esophagus The I1307K sequence variant was not found in 67 patients with esophageal cancer,... BeFree 10445854 Detail
0.076 colorectal carcinoma This excess can partially be attributed to inherited factors that are over repre... BeFree 16195945 Detail
0.076 colorectal carcinoma The I1307K adenomatous polyposis coli gene variant does not contribute in the as... BeFree 14578136 Detail
0.332 Hereditary Nonpolyposis Colorectal Cancer In addition, the rate of the I1307K APC missense mutation and the two predominan... BeFree 15929773 Detail
0.004 Esophageal Neoplasms The I1307K sequence variant was not found in 67 patients with esophageal cancer,... BeFree 10445854 Detail
0.009 breast carcinoma The APC gene I1307K variant is rare in Norwegian patients with familial and spor... BeFree 9679946 Detail
0.014 Colonic Polyps From this descriptive study, it seems that the short-term risk for colonic polyp... BeFree 15733272 Detail
0.076 colorectal carcinoma Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal ca... BeFree 15929773 Detail
0.030 Malignant tumor of colon The reported association between the APC I1307K mutation and colon cancer risk w... BeFree 10756345 Detail
0.076 colorectal carcinoma While the I1307K APC mutation clearly confers an increased lifetime risk for col... BeFree 15733272 Detail
0.240 colorectal cancer The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increa... BeFree 15516844 Detail
0.030 Malignant tumor of colon We have shown that the family's phenotype does not result from APC mutations (in... BeFree 10092300 Detail
<0.001 Hereditary Malignant Neoplasm In this study, 51 Jewish I1307K APC mutation carriers were identified in a high-... BeFree 15733272 Detail
0.076 colorectal carcinoma An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was rece... BeFree 10343885 Detail
0.047 Carcinogenesis To assess the risk of this common APC allelic variant in colorectal carcinogenes... BeFree 9973276 Detail
0.076 colorectal carcinoma The I1307K polymorphism of the APC gene in colorectal cancer. BeFree 9869603 Detail
0.240 colorectal cancer An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenaz... BeFree 9679945 Detail
0.076 colorectal carcinoma How the I1307K adenomatous polyposis coli gene variant contributes in the assess... BeFree 17854661 Detail
0.076 colorectal carcinoma The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashke... BeFree 9407954 Detail
0.087 Malignant neoplasm of prostate APC I1307K and the risk of prostate cancer. BeFree 16537703 Detail
0.240 colorectal cancer To this end, sequence analysis was carried out of the APC gene in order to ident... BeFree 11267860 Detail
0.240 colorectal cancer The I1307K polymorphism in APC has been found to predispose to colorectal cancer... BeFree 10555757 Detail
0.240 colorectal cancer While the I1307K APC mutation clearly confers an increased lifetime risk for col... BeFree 15733272 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Adenomatous polyposis coli, susceptibility to ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Breast cancer, susceptibility to ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Familial adenomatous polyposis 1 ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND not provided ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND not specified ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Colorectal cancer, susceptibility to ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Familial multiple polyposis syndrome ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Carcinoma of colon ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Colorectal cancer ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND APC-Associated Polyposis Disorders ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Breast carcinoma ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Familial colorectal cancer ClinVar Detail
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) AND Familial adenomatous polyposis 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The reported association between the APC I1307K mutation and colon cancer risk was supported by a co... DisGeNET Detail
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E... DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
These findings support a model where somatic instability of the (A)8 tract produced by the APC I1307... DisGeNET Detail
The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk... DisGeNET Detail
The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of... DisGeNET Detail
The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population ... DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
After adjustment for age, APC I1307K carriers were significantly more likely than noncarriers to hav... DisGeNET Detail
The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study popula... DisGeNET Detail
A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for ... DisGeNET Detail
Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewi... DisGeNET Detail
Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the in... DisGeNET Detail
The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patients with adenomatous p... DisGeNET Detail
An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenazi Jewish population ... DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for co... DisGeNET Detail
Here, we used this design to evaluate inherited susceptibility to prostate cancer associated with AP... DisGeNET Detail
The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population ... DisGeNET Detail
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari... DisGeNET Detail
The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or b... DisGeNET Detail
The I1307K polymorphism of the APC gene in colorectal cancer. DisGeNET Detail
The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patients with adenomatous p... DisGeNET Detail
The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic featur... DisGeNET Detail
From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC muta... DisGeNET Detail
It is therefore possible that many APC I1307K carriers with multiple adenomas have a susceptibility ... DisGeNET Detail
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a fami... DisGeNET Detail
The APC I1307K and E1317Q variants predispose to colorectal adenomas and carcinomas in Caucasians, b... DisGeNET Detail
We conclude that the APC I1307K variant leads to increased adenoma formation and directly contribute... DisGeNET Detail
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. DisGeNET Detail
Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for co... DisGeNET Detail
No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. DisGeNET Detail
APC I1307K and the risk of prostate cancer. DisGeNET Detail
This study seeks to determine whether there is any association of the I1307K, E1317Q and D1822V vari... DisGeNET Detail
The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with ga... DisGeNET Detail
Here, we used this design to evaluate inherited susceptibility to prostate cancer associated with AP... DisGeNET Detail
In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations i... DisGeNET Detail
The I1307K allele of the APC gene has been shown to confer a modestly elevated risk of colorectal ca... DisGeNET Detail
Phenotypic characteristics associated with the APC gene I1307K mutation in Ashkenazi Jewish patients... DisGeNET Detail
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more ques... DisGeNET Detail
The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study popula... DisGeNET Detail
This excess can partially be attributed to inherited factors that are over represented in this popul... DisGeNET Detail
The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colo... DisGeNET Detail
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
Recently, however, a missense variant of APC (I1307K) was described that confers an increased risk o... DisGeNET Detail
The reported association between the APC I1307K mutation and colon cancer risk was supported by a co... DisGeNET Detail
A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic... DisGeNET Detail
An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 i... DisGeNET Detail
We conclude that the APC I1307K variant leads to increased adenoma formation and directly contribute... DisGeNET Detail
The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of... DisGeNET Detail
Low prevalence of the APC I1307K sequence in Jewish and non-Jewish patients with inflammatory bowel ... DisGeNET Detail
We have shown that the family's phenotype does not result from APC mutations (including the I1307K v... DisGeNET Detail
The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and brea... DisGeNET Detail
Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarrie... DisGeNET Detail
The prevalence of polyps and adenomas in specimens of colorectal cancer who are carriers and noncarr... DisGeNET Detail
A missense mutation in APC (I1307K) is associated with some familial colorectal cancer in Ashkenazic... DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are seemingly similar t... DisGeNET Detail
APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. DisGeNET Detail
The I1307K APC polymorphism in Ashkenazi Jews with colorectal cancer: clinical and pathologic featur... DisGeNET Detail
Immunohistochemical analyses of colon cancer in I1307K APC mutation carriers compared with noncarrie... DisGeNET Detail
The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, ... DisGeNET Detail
Among the genetic defects associated with CRC, the APC I1307K mutation has been detected nearly excl... DisGeNET Detail
The reported association between the APC I1307K mutation and colon cancer risk was supported by a co... DisGeNET Detail
No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. DisGeNET Detail
Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the in... DisGeNET Detail
How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colo... DisGeNET Detail
These findings support a model where somatic instability of the (A)8 tract produced by the APC I1307... DisGeNET Detail
I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cance... DisGeNET Detail
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more ques... DisGeNET Detail
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared w... DisGeNET Detail
We conclude that the APC I1307K variant leads to increased adenoma formation and directly contribute... DisGeNET Detail
In conclusion, the molecular pathways in CRC in I1307K APC mutation carriers are seemingly similar t... DisGeNET Detail
A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for ... DisGeNET Detail
The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with ga... DisGeNET Detail
This excess can partially be attributed to inherited factors that are over represented in this popul... DisGeNET Detail
The I1307K adenomatous polyposis coli gene variant does not contribute in the assessment of the risk... DisGeNET Detail
In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations i... DisGeNET Detail
The I1307K sequence variant was not found in 67 patients with esophageal cancer, 53 patients with ga... DisGeNET Detail
The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or b... DisGeNET Detail
From this descriptive study, it seems that the short-term risk for colonic polyps in I1307K APC muta... DisGeNET Detail
Two APC germline mutations, E1317Q and I1307K, have been linked to colorectal cancer (CRC) risk. DisGeNET Detail
The reported association between the APC I1307K mutation and colon cancer risk was supported by a co... DisGeNET Detail
While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, ther... DisGeNET Detail
The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colo... DisGeNET Detail
We have shown that the family's phenotype does not result from APC mutations (including the I1307K v... DisGeNET Detail
In this study, 51 Jewish I1307K APC mutation carriers were identified in a high-risk familial cancer... DisGeNET Detail
An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 i... DisGeNET Detail
To assess the risk of this common APC allelic variant in colorectal carcinogenesis, we have analyzed... DisGeNET Detail
The I1307K polymorphism of the APC gene in colorectal cancer. DisGeNET Detail
An APC gene sequence alteration, the I1307K allele, occurs in 6% of the Ashkenazi Jewish population ... DisGeNET Detail
How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colo... DisGeNET Detail
The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and brea... DisGeNET Detail
APC I1307K and the risk of prostate cancer. DisGeNET Detail
To this end, sequence analysis was carried out of the APC gene in order to identify any I1307K and E... DisGeNET Detail
The I1307K polymorphism in APC has been found to predispose to colorectal cancer in Ashkenazi Jews, ... DisGeNET Detail
While the I1307K APC mutation clearly confers an increased lifetime risk for colorectal cancer, ther... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1801155 dbSNP
Genome
hg19
Position
chr5:112,175,211-112,175,211
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121054
Allele Counts in All Race (ExAC)
205
Heterozygous Counts in All Race (ExAC)
203
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.0016934591174186727
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