ClinVar
|
Risk
|
rs587782289(A;A) rs587782289(C;C) rs587782289(G;G) |
Alt
|
rs587782289(A;A) rs587782289(C;C) rs587782289(G;G) |
Reference
|
Rs587782289(T;T) |
Significance |
Pathogenic |
Disease |
Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Neoplasm of breast Adenocarcinoma of lung Adenocarcinoma of stomach Squamous cell carcinoma of the skin Neoplasm of brain Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of prostate Squamous cell carcinoma of lung Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Neoplasm of breast Adenocarcinoma of lung Adenocarcinoma of stomach Squamous cell carcinoma of the skin Neoplasm of brain Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of prostate Squamous cell carcinoma of lung Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577575A>C; NC_000017.10:g.7577575A>G; NC_000017.10:g.7577575A>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000131168.2, RCV000418648.1, RCV000419715.1, RCV000421075.1, RCV000421570.1, RCV000428270.1, RCV000429365.1, RCV000430428.1, RCV000435853.1, RCV000436923.1, RCV000438979.1, RCV000440030.1, RCV000198628.1, RCV000492107.1, RCV000421176.1, RCV000422301.1, RCV000426248.1, RCV000427088.1, RCV000431852.1, RCV000432981.1, RCV000438025.1, RCV000439518.1, RCV000443891.1, RCV000444573.1, RCV000444665.1, RCV000463978.1, |