ClinVar
|
Risk
|
rs121912666(C;C) rs121912666(G;G) |
Alt
|
rs121912666(C;C) rs121912666(G;G) |
Reference
|
Rs121912666(A;A) |
Significance |
Pathogenic |
Disease |
Hereditary cancer-predisposing syndrome not provided Li-Fraumeni syndrome Glioblastoma Ovarian Serous Cystadenocarcinoma Renal cell carcinoma Malignant neoplasm of body of uterus Neoplasm of breast Squamous cell carcinoma of lung Malignant melanoma of skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Adenocarcinoma of prostate Neoplasm of brain Uterine Carcinosarcoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Adenocarcinoma of lung Colorectal Neoplasms Small cell lung cancer Li-Fraumeni syndrome 1 |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome not provided Li-Fraumeni syndrome Glioblastoma Ovarian Serous Cystadenocarcinoma Renal cell carcinoma Malignant neoplasm of body of uterus Neoplasm of breast Squamous cell carcinoma of lung Malignant melanoma of skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Adenocarcinoma of prostate Neoplasm of brain Uterine Carcinosarcoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Adenocarcinoma of lung Colorectal Neoplasms Small cell lung cancer Li-Fraumeni syndrome 1 |
Reversed |
1 |
HGVS |
NC_000017.10:g.7578190T>C; NC_000017.10:g.7578190T>G |
CLNSRC |
UniProtKB (protein) OMIM Allelic Variant |
CLNACC |
RCV000115731.6, RCV000213055.2, RCV000232050.2, RCV000417417.1, RCV000418951.1, RCV000423029.1, RCV000423111.1, RCV000423624.1, RCV000425193.1, RCV000425869.1, RCV000428097.1, RCV000428791.1, RCV000433936.1, RCV000434300.1, RCV000434614.1, RCV000435063.1, RCV000436553.1, RCV000439456.1, RCV000439645.1, RCV000440244.1, RCV000442230.1, RCV000444717.1, RCV000444814.1, RCV000013183.24, RCV000417473.1, RCV000418406.1, RCV000422874.1, RCV000423167.1, RCV000424238.1, RCV000425300.1, RCV000425801.1, RCV000428157.1, RCV000429097.1, RCV000430581.1, RCV000432708.1, RCV000433786.1, RCV000435597.1, RCV000436486.1, RCV000441285.1, RCV000441465.1, RCV000443214.1, RCV000444276.1, RCV000445060.1, RCV000472593.1, |