ClinVar
|
Risk
|
rs587777790(A;A) |
Alt
|
rs587777790(A;A) |
Reference
|
Rs587777790(G;G) |
Significance |
Pathogenic |
Disease |
Cowden syndrome 5 Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of breast Adenocarcinoma of stomach Squamous cell carcinoma of lung Pancreatic adenocarcinoma Neoplasm of brain Neoplasm of the thyroid gland Adenocarcinoma of prostate Uterine cervical neoplasms Malignant neoplasm of body of uterus |
Variation | info |
---|
Gene |
PIK3CA |
CLNDBN |
Cowden syndrome 5 Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of breast Adenocarcinoma of stomach Squamous cell carcinoma of lung Pancreatic adenocarcinoma Neoplasm of brain Neoplasm of the thyroid gland Adenocarcinoma of prostate Uterine cervical neoplasms Malignant neoplasm of body of uterus |
Reversed |
0 |
HGVS |
NC_000003.11:g.178917478G>A |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000144506.3, RCV000417602.1, RCV000419113.1, RCV000420426.1, RCV000422840.1, RCV000424957.1, RCV000428287.1, RCV000428959.1, RCV000435685.1, RCV000437640.1, RCV000439852.1, RCV000440522.1, |