chr12:25360224:A>C Detail (hg19) (KRAS, ETFRF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:25,360,224-25,360,224 |
hg38 | chr12:25,207,290-25,207,290 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000553788.6:c.52-1905A>C |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004985.4:c.*2505T>G | |
NM_033360.3:c.*2505T>G | ||
Ensemble | ENST00000256078.10:c.*2626T>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-06-14 | criteria provided, single submitter | Noonan syndrome |
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Detail |
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2024-01-22 | criteria provided, single submitter | RASopathy |
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Detail |
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2017-11-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
ovary epithelial cancer | Carboplatin,Paclitaxel | B |
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Resistance | Common Germline | 3 | 22139083 | Detail |
head and neck squamous cell carcinoma | Cisplatin | B |
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Resistance | Common Germline | 3 | 25081901 | Detail |
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.005 | breast carcinoma | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... | BeFree | 22436609 | Detail |
0.160 | colorectal cancer | Using site-specific homologous recombination, we inserted the rs61764370:T>G ... | BeFree | 24282149 | Detail |
<0.001 | Hereditary Breast and Ovarian Cancer Syndrome | Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was... | BeFree | 20676756 | Detail |
0.240 | Malignant neoplasm of breast | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... | BeFree | 22436609 | Detail |
0.007 | ovarian carcinoma | Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was... | BeFree | 20676756 | Detail |
0.004 | Epithelial ovarian cancer | The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications ... | BeFree | 21385923 | Detail |
0.017 | Malignant neoplasm of ovary | Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was... | BeFree | 20676756 | Detail |
0.080 | breast carcinoma | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... | BeFree | 22436609 | Detail |
0.480 | Malignant neoplasm of breast | Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Du... | BeFree | 20676756 | Detail |
0.321 | Non-small cell lung carcinoma | Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was... | BeFree | 20676756 | Detail |
0.008 | Malignant neoplasm of breast | KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated ... | BeFree | 22436609 | Detail |
0.080 | breast carcinoma | Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Du... | BeFree | 20676756 | Detail |
<0.001 | Breast Cancer, Familial | Our data do not support the hypothesis that the KRAS variant rs61764370 is impli... | BeFree | 22436609 | Detail |
0.082 | colorectal carcinoma | Using site-specific homologous recombination, we inserted the rs61764370:T>G ... | BeFree | 24282149 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The functional variant rs61764370 in the KRAS gene 3' UTR (KRAS-variant) was found to be correlated ... | CIViC Evidence | Detail |
In the retrospective analysis of 103 HNSSC, the TG/GG rs61764370 variant was associated with poor re... | CIViC Evidence | Detail |
NM_033360.4(KRAS):c.*2626T>G AND Noonan syndrome | ClinVar | Detail |
NM_033360.4(KRAS):c.*2626T>G AND RASopathy | ClinVar | Detail |
NM_033360.4(KRAS):c.*2626T>G AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... | DisGeNET | Detail |
Using site-specific homologous recombination, we inserted the rs61764370:T>G KRAS gene variant in... | DisGeNET | Detail |
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associa... | DisGeNET | Detail |
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... | DisGeNET | Detail |
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associa... | DisGeNET | Detail |
The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing... | DisGeNET | Detail |
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associa... | DisGeNET | Detail |
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... | DisGeNET | Detail |
Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and... | DisGeNET | Detail |
Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associa... | DisGeNET | Detail |
KRAS rs61764370 is associated with HER2-overexpressed and poorly-differentiated breast cancer in hor... | DisGeNET | Detail |
Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and... | DisGeNET | Detail |
Our data do not support the hypothesis that the KRAS variant rs61764370 is implicated in the aetiolo... | DisGeNET | Detail |
Using site-specific homologous recombination, we inserted the rs61764370:T>G KRAS gene variant in... | 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
- rs61764370 dbSNP
- Genome
- hg19
- Position
- chr12:25,360,224-25,360,224
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs61764370
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Variant (CIViC) (CIViC Variant)
- RS61764370
- Transcript 1 (CIViC Variant)
- ENST00000311936.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/254
- Summary (CIViC Variant)
- Germline variant in the 3' UTR of KRAS that predicts resistance to platinum-based therapy.
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