chr20:57428713:T>C Detail (hg19) (GNAS)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:57,428,713-57,428,713 |
hg38 | chr20:58,853,658-58,853,658 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001309883.1:c.398T>C | NP_001296812.1:p.Leu133Ser |
NM_001309840.1:c.*42+12772T>C | ||
NM_001309861.1:c.*42+12772T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
lung non-small cell carcinoma | Erlotinib,Gefitinib | B |
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Resistance | Common Germline | 2 | 24758907 | Detail |
intrahepatic cholangiocarcinoma | B |
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Poor Outcome | Common Germline | 3 | 17356712 | Detail | |
breast carcinoma | B |
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Poor Outcome | Common Germline | 4 | 17186357 | Detail | |
bladder urothelial carcinoma | B |
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Better Outcome | Common Germline | 4 | 15824158 | Detail | |
colorectal cancer | B |
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Better Outcome | Common Germline | 4 | 16033819 | Detail | |
esophageal cancer | Cisplatin,Fluorouracil | B |
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Resistance | Common Germline | 4 | 19274060 | Detail |
clear cell renal cell carcinoma | B |
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Better Outcome | Common Germline | 4 | 16467086 | Detail | |
chronic lymphocytic leukemia | B |
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Better Outcome | Common Germline | 4 | 17020971 | Detail | |
melanoma | B |
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Better Outcome | Common Germline | 4 | 21156401 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The disease control rate of patients with GNAS1 T393C CC genotype was lower than that of patients wi... | CIViC Evidence | Detail |
Intrahepatic cholangiocarcinomas of patients with homozygous TT genotypes revealed a higher prolifer... | CIViC Evidence | Detail |
This study showed that the carriers of the T allele had a significantly less favourable course of th... | CIViC Evidence | Detail |
This study demostrated that the progression-free survival, metastasis-free survival, and cancer-spec... | CIViC Evidence | Detail |
In a retrospective study of 151 patients with sporadic colorectal cancer, 5-year survival rate was s... | CIViC Evidence | Detail |
Overall, 63% of the patients in the T-allele group (TT + CT), i.e with the T393C genotype, were mino... | CIViC Evidence | Detail |
In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-relat... | CIViC Evidence | Detail |
In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progre... | CIViC Evidence | Detail |
This study showed that GNAS1 T393C SNP represents a genetic host factor for predicting tumor progres... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr20:57,428,713-57,428,713
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- T393C
- Transcript 1 (CIViC Variant)
- ENST00000371100
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/877
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