ClinVar
|
Risk
|
rs121912656(A;A) rs121912656(C;C) rs121912656(T;T) |
Alt
|
rs121912656(A;A) rs121912656(C;C) rs121912656(T;T) |
Reference
|
Rs121912656(G;G) |
Significance |
Pathogenic |
Disease |
Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Ovarian Serous Cystadenocarcinoma Neoplasm of brain Glioblastoma Colorectal Neoplasms Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Oesophageal carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Hepatocellular carcinoma Adenocarcinoma of lung Neoplasm of breast Squamous cell carcinoma of lung Brainstem glioma not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Ovarian Serous Cystadenocarcinoma Neoplasm of brain Glioblastoma Colorectal Neoplasms Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Oesophageal carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Hepatocellular carcinoma Adenocarcinoma of lung Neoplasm of breast Squamous cell carcinoma of lung Brainstem glioma not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577547C>A; NC_000017.10:g.7577547C>G; NC_000017.10:g.7577547C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000418643.1, RCV000421020.1, RCV000421739.1, RCV000424123.1, RCV000426568.1, RCV000428216.1, RCV000429303.1, RCV000430431.1, RCV000434145.1, RCV000434833.1, RCV000435854.1, RCV000437258.1, RCV000438982.1, RCV000439974.1, RCV000443716.1, RCV000444483.1, RCV000255018.1, RCV000420237.1, RCV000421477.1, RCV000422531.1, RCV000425368.1, RCV000426521.1, RCV000427619.1, RCV000428537.1, RCV000431752.1, RCV000432804.1, RCV000433958.1, RCV000436773.1, RCV000437884.1, RCV000438479.1, RCV000442824.1, RCV000443789.1, RCV000443845.1, RCV000013149.23, RCV000164465.1, RCV000206683.1, RCV000419718.1, RCV000421349.1, RCV000421831.1, RCV000422520.1, RCV000426192.1, RCV000427250.1, RCV000429017.1, RCV000431450.1, RCV000432021.1, RCV000436871.1, RCV000437916.1, RCV000439739.1, RCV000440814.1, RCV000443515.1, RCV000444212.1, RCV000444304.1, |