ClinVar
|
Risk
|
rs121913286(A;A) rs121913286(G;G) |
Alt
|
rs121913286(A;A) rs121913286(G;G) |
Reference
|
Rs121913286(C;C) |
Significance |
Pathogenic |
Disease |
Ovarian epithelial cancer Carcinoma of colon PIK3CA related overgrowth spectrum Malignant tumor of prostate Glioblastoma Medulloblastoma Colorectal Neoplasms Adenocarcinoma of prostate Transitional cell carcinoma of the bladder Lung cancer Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Ovarian Neoplasms Uterine Carcinosarcoma Neoplasm of breast Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Uterine cervical neoplasms Breast adenocarcinoma |
Variation | info |
---|
Gene |
PIK3CA |
CLNDBN |
Ovarian epithelial cancer Carcinoma of colon PIK3CA related overgrowth spectrum Malignant tumor of prostate Glioblastoma Medulloblastoma Colorectal Neoplasms Adenocarcinoma of prostate Transitional cell carcinoma of the bladder Lung cancer Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Ovarian Neoplasms Uterine Carcinosarcoma Neoplasm of breast Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Uterine cervical neoplasms Breast adenocarcinoma |
Reversed |
0 |
HGVS |
NC_000003.11:g.178936094C>A; NC_000003.11:g.178936094C>G |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000014639.5, RCV000014640.5, RCV000201230.1, RCV000205164.1, RCV000419967.1, RCV000421680.1, RCV000424106.1, RCV000425454.1, RCV000426539.1, RCV000430236.1, RCV000430641.1, RCV000431780.1, RCV000431921.1, RCV000436582.1, RCV000436763.1, RCV000441825.1, RCV000442123.1, RCV000442141.1, RCV000443162.1, RCV000014630.5, RCV000420029.1, RCV000421157.1, RCV000421383.1, RCV000422486.1, RCV000427915.1, RCV000431151.1, RCV000432516.1, RCV000432772.1, RCV000437696.1, RCV000439013.1, RCV000441411.1, RCV000441934.1, RCV000442905.1, |