ClinVar
|
Risk
|
rs397516436(G;G) rs397516436(T;T) |
Alt
|
rs397516436(G;G) rs397516436(T;T) |
Reference
|
Rs397516436(C;C) |
Significance |
Pathogenic |
Disease |
Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not provided Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Oesophageal carcinoma Colorectal Neoplasms Adenoid cystic carcinoma Pancreatic adenocarcinoma Renal cell carcinoma Adrenocortical carcinoma Neoplasm of brain Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine Carcinosarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Adenocarcinoma of lung Neoplasm of breast |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not provided Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Oesophageal carcinoma Colorectal Neoplasms Adenoid cystic carcinoma Pancreatic adenocarcinoma Renal cell carcinoma Adrenocortical carcinoma Neoplasm of brain Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine Carcinosarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Adenocarcinoma of lung Neoplasm of breast |
Reversed |
1 |
HGVS |
NC_000017.10:g.7578212G>A; NC_000017.10:g.7578212G>C |
CLNSRC |
COSMIC |
CLNACC |
RCV000036532.5, RCV000115730.7, RCV000144672.3, RCV000213050.2, RCV000417479.1, RCV000419627.1, RCV000420272.1, RCV000421524.1, RCV000421648.1, RCV000424254.1, RCV000425630.1, RCV000426157.1, RCV000426799.1, RCV000428146.1, RCV000428823.1, RCV000430949.1, RCV000431481.1, RCV000432206.1, RCV000432863.1, RCV000436862.1, RCV000437472.1, RCV000438186.1, RCV000438677.1, RCV000438834.1, RCV000444193.1, RCV000444980.1, |