ClinVar
|
Risk
|
rs587782664(A;A) rs587782664(C;C) rs587782664(T;T) |
Alt
|
rs587782664(A;A) rs587782664(C;C) rs587782664(T;T) |
Reference
|
Rs587782664(G;G) |
Significance |
Probable-Pathogenic |
Disease |
Hereditary cancer-predisposing syndrome Neoplasm of brain Ovarian Serous Cystadenocarcinoma Malignant neoplasm of body of uterus Brainstem glioma Squamous cell carcinoma of the head and neck Oesophageal carcinoma Adenocarcinoma of lung Adenocarcinoma of stomach Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Squamous cell carcinoma of lung Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome Neoplasm of brain Ovarian Serous Cystadenocarcinoma Malignant neoplasm of body of uterus Brainstem glioma Squamous cell carcinoma of the head and neck Oesophageal carcinoma Adenocarcinoma of lung Adenocarcinoma of stomach Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Squamous cell carcinoma of lung Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577570C>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000132084.3, RCV000417987.1, RCV000420354.1, RCV000422710.1, RCV000423376.1, RCV000428641.1, RCV000431054.1, RCV000432346.1, RCV000433401.1, RCV000435205.1, RCV000440576.1, RCV000441079.1, RCV000441725.1, RCV000464261.1, |