ClinVar
|
Risk
|
rs121434592(A;A) |
Alt
|
rs121434592(A;A) |
Reference
|
Rs121434592(G;G) |
Significance |
Pathogenic |
Disease |
Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Adenocarcinoma of prostate Neoplasm of the thyroid gland Osteosarcoma Small cell lung cancer Malignant melanoma of skin Adenocarcinoma of stomach Colorectal Neoplasms Neoplasm of breast Endometrial Endometrioid Adenocarcinoma Adenocarcinoma of lung Meningeal Neoplasms Non-small cell lung cancer Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostatic Neoplasms |
Variation | info |
---|
Gene |
AKT1 |
CLNDBN |
Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Adenocarcinoma of prostate Neoplasm of the thyroid gland Osteosarcoma Small cell lung cancer Malignant melanoma of skin Adenocarcinoma of stomach Colorectal Neoplasms Neoplasm of breast Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Adenocarcinoma of lung Meningeal Neoplasms Non-small cell lung cancer Uterine cervical neoplasms Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostatic Neoplasms |
Reversed |
1 |
HGVS |
NC_000014.8:g.105246551C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000015017.4, RCV000015018.4, RCV000015019.4, RCV000031926.5, RCV000419412.1, RCV000421009.1, RCV000421696.1, RCV000421850.1, RCV000426386.1, RCV000427484.1, RCV000429060.1, RCV000430173.1, RCV000431237.1, RCV000431723.1, RCV000434120.1, RCV000436698.1, RCV000438154.1, RCV000439982.1, RCV000440828.1, RCV000443761.1, RCV000444311.1, RCV000445271.1, |