ClinVar
|
Risk
|
rs1057519982(A;A) rs1057519982(G;G) |
Alt
|
rs1057519982(A;A) rs1057519982(G;G) |
Reference
|
Rs1057519982(T;T) |
Significance |
Probable-Pathogenic |
Disease |
Uterine Carcinosarcoma Oesophageal carcinoma Glioblastoma Adenocarcinoma of stomach Chronic lymphocytic leukemia Squamous cell carcinoma of lung Neoplasm of breast Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Adenocarcinoma of lung Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Uterine Carcinosarcoma Oesophageal carcinoma Glioblastoma Adenocarcinoma of stomach Chronic lymphocytic leukemia Squamous cell carcinoma of lung Neoplasm of breast Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Adenocarcinoma of lung Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577557A>C; NC_000017.10:g.7577557A>T |
CLNSRC |
|
CLNACC |
RCV000417900.1, RCV000420803.1, RCV000426704.1, RCV000427357.1, RCV000428013.1, RCV000428578.1, RCV000435223.1, RCV000437385.1, RCV000438030.1, RCV000442190.1, RCV000444807.1, RCV000461418.1, RCV000419559.1, RCV000423712.1, RCV000424356.1, RCV000429187.1, RCV000430244.1, RCV000431566.1, RCV000434352.1, RCV000439881.1, RCV000440943.1, RCV000441578.1, RCV000442629.1, |