ClinVar
|
Risk
|
rs1057519992(G;G) rs1057519992(T;T) |
Alt
|
rs1057519992(G;G) rs1057519992(T;T) |
Reference
|
Rs1057519992(A;A) |
Significance |
Probable-Pathogenic |
Disease |
Squamous cell carcinoma of lung Pancreatic adenocarcinoma Chronic lymphocytic leukemia Hepatocellular carcinoma Glioblastoma Oesophageal carcinoma Adenocarcinoma of stomach Colorectal Neoplasms Transitional cell carcinoma of the bladder Renal cell carcinoma Ovarian Serous Cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Squamous cell carcinoma of lung Pancreatic adenocarcinoma Chronic lymphocytic leukemia Hepatocellular carcinoma Glioblastoma Oesophageal carcinoma Adenocarcinoma of stomach Colorectal Neoplasms Transitional cell carcinoma of the bladder Renal cell carcinoma Ovarian Serous Cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7578208T>A; NC_000017.10:g.7578208T>C |
CLNSRC |
|
CLNACC |
RCV000421427.1, RCV000423188.1, RCV000427039.1, RCV000427702.1, RCV000431675.1, RCV000433885.1, RCV000437948.1, RCV000440391.1, RCV000442701.1, RCV000444957.1, RCV000445284.1, RCV000417658.1, RCV000418330.1, RCV000422504.1, RCV000427653.1, RCV000428396.1, RCV000429028.1, RCV000429736.1, RCV000434864.1, RCV000435583.1, RCV000439733.1, RCV000445232.1, RCV000477234.1, RCV000492372.1, |