ClinVar
|
Risk
|
rs587782329(A;A) rs587782329(C;C) rs587782329(T;T) |
Alt
|
rs587782329(A;A) rs587782329(C;C) rs587782329(T;T) |
Reference
|
Rs587782329(G;G) |
Significance |
Probable-Pathogenic |
Disease |
Squamous cell carcinoma of the skin Small cell lung cancer Adenocarcinoma of stomach Hepatocellular carcinoma Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Medulloblastoma Malignant neoplasm of body of uterus Oesophageal carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Uterine Carcinosarcoma Neoplasm of breast Acute myeloid leukemia Hereditary cancer-predisposing syndrome not specified |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Squamous cell carcinoma of the skin Small cell lung cancer Adenocarcinoma of stomach Hepatocellular carcinoma Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Medulloblastoma Malignant neoplasm of body of uterus Oesophageal carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Uterine Carcinosarcoma Neoplasm of breast Acute myeloid leukemia Hereditary cancer-predisposing syndrome not specified |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577535C>A; NC_000017.10:g.7577535C>G; NC_000017.10:g.7577535C>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000419533.1, RCV000420239.1, RCV000420945.1, RCV000421561.1, RCV000422393.1, RCV000428988.1, RCV000429799.1, RCV000430463.1, RCV000431805.1, RCV000434651.1, RCV000437240.1, RCV000439247.1, RCV000440059.1, RCV000445070.1, RCV000445103.1, RCV000420349.1, RCV000422597.1, RCV000423288.1, RCV000424367.1, RCV000425028.1, RCV000426063.1, RCV000430687.1, RCV000431816.1, RCV000432872.1, RCV000433555.1, RCV000438147.1, RCV000440254.1, RCV000440948.1, RCV000441532.1, RCV000444506.1, RCV000444945.1, RCV000445262.1, RCV000131246.2, RCV000179772.1, RCV000419499.1, RCV000419850.1, RCV000420497.1, RCV000421647.1, RCV000421887.1, RCV000427275.1, RCV000429077.1, RCV000429319.1, RCV000430131.1, RCV000431473.1, RCV000437502.1, RCV000438874.1, RCV000439985.1, RCV000440358.1, RCV000445113.1, |