ClinVar
|
Risk
|
rs587782082(G;G) rs587782082(T;T) |
Alt
|
rs587782082(G;G) rs587782082(T;T) |
Reference
|
Rs587782082(A;A) |
Significance |
Probable-Pathogenic |
Disease |
Hereditary cancer-predisposing syndrome Oesophageal carcinoma Uterine Carcinosarcoma Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of lung Hepatocellular carcinoma Adenocarcinoma of prostate Acute myeloid leukemia Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Small cell lung cancer Medulloblastoma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome Oesophageal carcinoma Uterine Carcinosarcoma Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of lung Hepatocellular carcinoma Adenocarcinoma of prostate Acute myeloid leukemia Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Small cell lung cancer Medulloblastoma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577536T>A; NC_000017.10:g.7577536T>C |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000130578.2, RCV000417537.1, RCV000418238.1, RCV000423307.1, RCV000424980.1, RCV000425504.1, RCV000426167.1, RCV000431276.1, RCV000432429.1, RCV000432948.1, RCV000433563.1, RCV000434278.1, RCV000435249.1, RCV000435888.1, RCV000440994.1, RCV000443796.1, RCV000444809.1, RCV000418381.1, RCV000419254.1, RCV000421216.1, RCV000423993.1, RCV000426656.1, RCV000427287.1, RCV000427933.1, RCV000428633.1, RCV000429532.1, RCV000436273.1, RCV000436898.1, RCV000437517.1, RCV000438863.1, RCV000441694.1, RCV000444068.1, RCV000467567.1, |