chr19:50887580:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr19:50,887,580-50,921,275
hg38 chr19:50,384,323-50,418,018 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 cerebral infarction NA BeFree Detail
0.003 Colonic Neoplasms NA LHGDN Detail
0.002 colorectal carcinoma Although the risk of CRC associated with unexplained familial CRC is in general ... BeFree 25559809 Detail
0.120 Colorectal Neoplasms NA BeFree,CTD_human Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
0.120 Deafness NA CTD_human Detail
0.120 Endometrial Neoplasms NA CTD_human Detail
<0.001 endometriosis NA BeFree Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 glioblastoma Expression of CDC2 was evaluated in glioblastoma and cell lines by immunohistoch... BeFree 25433945 Detail
0.001 Glioma Effective enhancement of radiation therapy for gliomas in vivo and in vitro was ... BeFree 24859610 Detail
0.001 Glioma Cell division cycle 2 (CDC2) is always overexpressed in malignant tumor cells an... BeFree 25433945 Detail
0.002 Graft-vs-Host Disease NA GAD Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.001 HIV Infections NA BeFree Detail
0.120 hypogonadism NA CTD_human Detail
0.120 Jaw Abnormalities NA CTD_human Detail
0.001 leukemia NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 acute promyelocytic leukemia NA BeFree Detail
0.121 lipodystrophy This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid fe... BeFree,CTD_human 26350127 Detail
0.001 Liver neoplasms NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
<0.001 lymphoma NA BeFree Detail
<0.001 medulloblastoma NA BeFree Detail
<0.001 melanoma NA BeFree Detail
<0.001 multiple myeloma NA BeFree Detail
0.002 multiple sclerosis NA GAD Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 Pituitary Neoplasms NA BeFree Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
0.001 retinoblastoma NA BeFree Detail
<0.001 Cerebrovascular accident NA BeFree Detail
<0.001 B-Cell Lymphomas Combined CDC2 knockdown and TMZ treatment inhibited cell proliferation and induc... BeFree 25433945 Detail
<0.001 diffuse large B-cell lymphoma NA BeFree Detail
<0.001 Neurofibrillary degeneration (morphologic abnormality) NA BeFree Detail
<0.001 hepatoblastoma Calycopterin treatment also affected HepG2 cell viability: (a) by inhibiting cel... BeFree 25060910 Detail
<0.001 Giant Cell Tumor of Bone NA BeFree Detail
0.003 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 Senile Plaques NA BeFree Detail
<0.001 Multiple polyps By using whole-genome sequencing, germline mutations in the POLE and POLD1 genes... BeFree 24587672 Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
0.002 Hematologic Neoplasms NA GAD Detail
0.002 endometrial carcinoma Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic... BeFree 24838932 Detail
<0.001 Alzheimer Disease, Late Onset NA BeFree Detail
<0.001 Malignant glioma These results indicate that the ability to suppress the malignant phenotype by d... BeFree 25433945 Detail
<0.001 Multisystem disorder NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 prostate carcinoma NA BeFree Detail
0.001 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Diffuse large B-cell lymphoma recurrent NA BeFree Detail
<0.001 Infectious disease of lung NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
0.001 Adenoma of large intestine Missense mutations in the polymerase genes POLE and POLD1 have recently been ide... BeFree 25529843 Detail
0.002 colorectal cancer Although the risk of CRC associated with unexplained familial CRC is in general ... BeFree 25559809 Detail
<0.001 Pneumocystis jiroveci pneumonia NA BeFree Detail
0.002 uterine corpus cancer Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic... BeFree 24838932 Detail
<0.001 coronary artery disease NA BeFree Detail
0.002 liver carcinoma Silencing ARPP-19 in HCC cells resulted in decreased protein levels of phospho-(... BeFree 25547487 Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1... BeFree 25023197 Detail
0.240 ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid fe... BeFree,CLINVAR,ORPHANET 26350127 Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 ataxia telangiectasia NA BeFree Detail
0.007 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.009 Malignant neoplasm of breast NA BeFree,GAD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
0.002 Malignant neoplasm of endometrium Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic... BeFree 24838932 Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Although the risk of CRC associated with unexplained familial CRC is in general moderate, in some fa... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Expression of CDC2 was evaluated in glioblastoma and cell lines by immunohistochemistry and Western ... DisGeNET Detail
Effective enhancement of radiation therapy for gliomas in vivo and in vitro was observed upon silenc... DisGeNET Detail
Cell division cycle 2 (CDC2) is always overexpressed in malignant tumor cells and is correlated with... DisGeNET Detail
NA DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodyst... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Combined CDC2 knockdown and TMZ treatment inhibited cell proliferation and induced apoptosis in vitr... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Calycopterin treatment also affected HepG2 cell viability: (a) by inhibiting cell cycle progression ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
By using whole-genome sequencing, germline mutations in the POLE and POLD1 genes have been found to ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA poly... DisGeNET Detail
NA DisGeNET Detail
These results indicate that the ability to suppress the malignant phenotype by down-regulating CDC2 ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Missense mutations in the polymerase genes POLE and POLD1 have recently been identified as rare caus... DisGeNET Detail
Although the risk of CRC associated with unexplained familial CRC is in general moderate, in some fa... DisGeNET Detail
NA DisGeNET Detail
Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA poly... DisGeNET Detail
NA DisGeNET Detail
Silencing ARPP-19 in HCC cells resulted in decreased protein levels of phospho-(Ser) CDKs substrates... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 rs1800067>R415Q (rs1800... DisGeNET Detail
This article reports the 5th MDPL (Mandibular hypoplasia, deafness, progeroid features, and lipodyst... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA poly... DisGeNET Detail
NA 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
rs386493716 dbSNP
Genome
hg19
Position
chr19:50,887,580-50,921,275
Variant Type
snv
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