ClinVar
|
Risk
|
rs121913281(T;T) |
Alt
|
rs121913281(T;T) |
Reference
|
Rs121913281(C;C) |
Significance |
Pathogenic |
Disease |
Megalencephaly cutis marmorata telangiectatica congenita Non-small cell lung cancer Medulloblastoma Hepatocellular carcinoma Malignant tumor of floor of mouth Adenocarcinoma of prostate Malignant neoplasm of body of uterus Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Malignant melanoma of skin Glioblastoma Oesophageal carcinoma Adenocarcinoma of lung Uterine Carcinosarcoma Uterine cervical neoplasms Transitional cell carcinoma of the bladder Brainstem glioma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Renal cell carcinoma Adrenocortical carcinoma |
Variation | info |
---|
Gene |
PIK3CA |
CLNDBN |
Megalencephaly cutis marmorata telangiectatica congenita Non-small cell lung cancer Medulloblastoma Hepatocellular carcinoma Malignant tumor of floor of mouth Adenocarcinoma of prostate Malignant neoplasm of body of uterus Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Malignant melanoma of skin Glioblastoma Oesophageal carcinoma Adenocarcinoma of lung Uterine Carcinosarcoma Uterine cervical neoplasms Transitional cell carcinoma of the bladder Brainstem glioma Ovarian Serous Cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of breast Pancreatic adenocarcinoma Colorectal Neoplasms Renal cell carcinoma Adrenocortical carcinoma |
Reversed |
0 |
HGVS |
NC_000003.11:g.178952084C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000032909.5, RCV000038675.2, RCV000417782.1, RCV000418438.1, RCV000420550.1, RCV000422744.1, RCV000423369.1, RCV000424877.1, RCV000425119.1, RCV000425540.1, RCV000425809.1, RCV000428005.1, RCV000430750.1, RCV000432323.1, RCV000432906.1, RCV000433635.1, RCV000435124.1, RCV000435399.1, RCV000436090.1, RCV000440398.1, RCV000441028.1, RCV000441716.1, RCV000441963.1, RCV000442782.1, RCV000444680.1, |