ClinVar
|
Risk
|
rs1057520002(C;C) rs1057520002(G;G) |
Alt
|
rs1057520002(C;C) rs1057520002(G;G) |
Reference
|
Rs1057520002(T;T) |
Significance |
Probable-Pathogenic |
Disease |
Oesophageal carcinoma Colorectal Neoplasms Uterine Carcinosarcoma Neoplasm of brain Carcinoma of gallbladder Malignant melanoma of skin Malignant lymphoma Brainstem glioma Malignant neoplasm of body of uterus Neoplasm of breast Glioblastoma Renal cell carcinoma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Adenocarcinoma of lung Papillary renal cell carcinoma Transitional cell carcinoma of the bladder |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Oesophageal carcinoma Colorectal Neoplasms Uterine Carcinosarcoma Neoplasm of brain Carcinoma of gallbladder Malignant melanoma of skin Malignant lymphoma, non-Hodgkin Brainstem glioma Malignant neoplasm of body of uterus Neoplasm of breast Glioblastoma Renal cell carcinoma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Adenocarcinoma of lung Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577560A>C; NC_000017.10:g.7577560A>G |
CLNSRC |
|
CLNACC |
RCV000418366.1, RCV000419457.1, RCV000420564.1, RCV000422775.1, RCV000423557.1, RCV000424609.1, RCV000425684.1, RCV000426866.1, RCV000429686.1, RCV000432077.1, RCV000434790.1, RCV000434877.1, RCV000435947.1, RCV000437125.1, RCV000440449.1, RCV000441702.1, RCV000441931.1, RCV000441961.1, RCV000443160.1, RCV000417799.1, RCV000418899.1, RCV000421946.1, RCV000422882.1, RCV000423390.1, RCV000425213.1, RCV000427437.1, RCV000428035.1, RCV000429092.1, RCV000430183.1, RCV000433139.1, RCV000433946.1, RCV000435497.1, RCV000436563.1, RCV000437871.1, RCV000439326.1, RCV000442103.1, RCV000442139.1, RCV000443312.1, |