ClinVar
|
Risk
|
rs1057519984(A;A) rs1057519984(G;G) |
Alt
|
rs1057519984(A;A) rs1057519984(G;G) |
Reference
|
Rs1057519984(C;C) |
Significance |
Probable-Pathogenic |
Disease |
Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Malignant melanoma of skin Squamous cell carcinoma of the skin Adenocarcinoma of lung Uterine Carcinosarcoma Neuroblastoma Chronic lymphocytic leukemia Glioblastoma Renal cell carcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Squamous cell carcinoma of lung Pancreatic adenocarcinoma Multiple myeloma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of breast Malignant melanoma of skin Squamous cell carcinoma of the skin Adenocarcinoma of lung Uterine Carcinosarcoma Neuroblastoma Chronic lymphocytic leukemia Glioblastoma Renal cell carcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Squamous cell carcinoma of lung Pancreatic adenocarcinoma Multiple myeloma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577095G>C; NC_000017.10:g.7577095G>T |
CLNSRC |
|
CLNACC |
RCV000417671.1, RCV000419836.1, RCV000420516.1, RCV000422083.1, RCV000422714.1, RCV000424389.1, RCV000424902.1, RCV000430093.1, RCV000430695.1, RCV000431703.1, RCV000432322.1, RCV000432958.1, RCV000438151.1, RCV000439711.1, RCV000440370.1, RCV000440974.1, RCV000443165.1, RCV000443254.1, RCV000470818.1, |