ClinVar
|
Risk
|
rs28934874(A;A) rs28934874(G;G) rs28934874(T;T) |
Alt
|
rs28934874(A;A) rs28934874(G;G) rs28934874(T;T) |
Reference
|
Rs28934874(C;C) |
Significance |
Pathogenic |
Disease |
Breast adenocarcinoma not provided Hereditary cancer-predisposing syndrome Malignant melanoma of skin Adenocarcinoma of stomach Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Uterine Carcinosarcoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell carcinoma of lung Neoplasm of breast Pancreatic adenocarcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Breast adenocarcinoma not provided Hereditary cancer-predisposing syndrome Malignant melanoma of skin Adenocarcinoma of stomach Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Uterine Carcinosarcoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell carcinoma of lung Neoplasm of breast Pancreatic adenocarcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7578479G>A; NC_000017.10:g.7578479G>C; NC_000017.10:g.7578479G>T |
CLNSRC |
HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000013169.6, RCV000079203.4, RCV000219702.1, RCV000420199.1, RCV000420869.1, RCV000421928.1, RCV000422996.1, RCV000424996.1, RCV000426058.1, RCV000427411.1, RCV000429847.1, RCV000431507.1, RCV000432585.1, RCV000433689.1, RCV000435681.1, RCV000438074.1, RCV000440140.1, RCV000440887.1, RCV000443020.1, RCV000443379.1, RCV000418125.1, RCV000419693.1, RCV000420838.1, RCV000420971.1, RCV000425371.1, RCV000426064.1, RCV000426471.1, RCV000428371.1, RCV000431059.1, RCV000431789.1, RCV000432886.1, RCV000436762.1, RCV000437396.1, RCV000438632.1, RCV000441351.1, RCV000443299.1, RCV000443386.1, RCV000459465.1, RCV000013168.4, RCV000130617.3, RCV000417493.1, RCV000418145.1, RCV000422094.1, RCV000423161.1, RCV000424222.1, RCV000425139.1, RCV000428384.1, RCV000428836.1, RCV000429500.1, RCV000433405.1, RCV000434485.1, RCV000435159.1, RCV000437544.1, RCV000439740.1, RCV000440812.1, RCV000442802.1, RCV000443817.1, |