ClinVar
|
Risk
|
rs1057519996(C;C) rs1057519996(G;G) rs1057519996(T;T) |
Alt
|
rs1057519996(C;C) rs1057519996(G;G) rs1057519996(T;T) |
Reference
|
Rs1057519996(A;A) |
Significance |
Probable-Pathogenic |
Disease |
Colorectal Neoplasms Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Neoplasm of brain Neoplasm of breast Uterine Carcinosarcoma Uterine cervical neoplasms Pancreatic adenocarcinoma Adrenocortical carcinoma Oesophageal carcinoma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Multiple myeloma Squamous cell carcinoma of lung Adenocarcinoma of lung Li-Fraumeni syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Colorectal Neoplasms Adenocarcinoma of stomach Glioblastoma Transitional cell carcinoma of the bladder Neoplasm of brain Neoplasm of breast Uterine Carcinosarcoma Uterine cervical neoplasms Pancreatic adenocarcinoma Adrenocortical carcinoma Oesophageal carcinoma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Multiple myeloma Squamous cell carcinoma of lung Adenocarcinoma of lung Li-Fraumeni syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7578535T>A; NC_000017.10:g.7578535T>C; NC_000017.10:g.7578535T>G |
CLNSRC |
|
CLNACC |
RCV000418504.1, RCV000418722.1, RCV000421596.1, RCV000424301.1, RCV000426255.1, RCV000426873.1, RCV000428123.1, RCV000428765.1, RCV000431846.1, RCV000433916.1, RCV000434568.1, RCV000437107.1, RCV000438364.1, RCV000439874.1, RCV000441135.1, RCV000442900.1, RCV000418417.1, RCV000419418.1, RCV000419619.1, RCV000421674.1, RCV000423130.1, RCV000424246.1, RCV000426827.1, RCV000428190.1, RCV000429087.1, RCV000429251.1, RCV000434074.1, RCV000436453.1, RCV000436660.1, RCV000438897.1, RCV000441520.1, RCV000443007.1, RCV000471183.1, RCV000419605.1, RCV000420694.1, RCV000422403.1, RCV000423393.1, RCV000424547.1, RCV000425633.1, RCV000427017.1, RCV000430299.1, RCV000433123.1, RCV000433243.1, RCV000435461.1, RCV000437675.1, RCV000437910.1, RCV000442106.1, RCV000442467.1, RCV000443063.1, |