ClinVar
|
Risk
|
rs730882008(A;A) rs730882008(C;C) rs730882008(T;T) |
Alt
|
rs730882008(A;A) rs730882008(C;C) rs730882008(T;T) |
Reference
|
Rs730882008(G;G) |
Significance |
Pathogenic |
Disease |
Hereditary cancer-predisposing syndrome not specified Neoplasm of brain Malignant lymphoma Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Malignant melanoma of skin Adenocarcinoma of lung Renal cell carcinoma Glioblastoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Hepatocellular carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Oesophageal carcinoma Colorectal Neoplasms Neoplasm of breast Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome not specified Neoplasm of brain Malignant lymphoma, non-Hodgkin Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Malignant melanoma of skin Adenocarcinoma of lung Renal cell carcinoma Glioblastoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Hepatocellular carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Oesophageal carcinoma Colorectal Neoplasms Neoplasm of breast Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577093C>A; NC_000017.10:g.7577093C>G; NC_000017.10:g.7577093C>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000161038.5, RCV000213059.1, RCV000417824.1, RCV000417919.1, RCV000419006.1, RCV000423005.1, RCV000423789.1, RCV000424978.1, RCV000425389.1, RCV000426071.1, RCV000427957.1, RCV000428608.1, RCV000432620.1, RCV000433722.1, RCV000434763.1, RCV000435036.1, RCV000438637.1, RCV000440221.1, RCV000441023.1, RCV000441861.1, RCV000442220.1, RCV000492764.1, RCV000226273.2, RCV000235474.2, RCV000418376.1, RCV000421276.1, RCV000422340.1, RCV000423658.1, RCV000425549.1, RCV000426667.1, RCV000427734.1, RCV000428909.1, RCV000429554.1, RCV000431918.1, RCV000433180.1, RCV000434324.1, RCV000436164.1, RCV000437335.1, RCV000438489.1, RCV000439593.1, RCV000442318.1, RCV000442471.1, RCV000444806.1, RCV000492420.1, |