ClinVar
|
Risk
|
rs11554273(A;A) rs11554273(G;G) rs11554273(T;T) |
Alt
|
rs11554273(A;A) rs11554273(G;G) rs11554273(T;T) |
Reference
|
Rs11554273(C;C) |
Significance |
Pathogenic |
Disease |
Somatotroph adenoma Polyostotic fibrous dysplasia Cushing's syndrome McCune-Albright syndrome Sex cord-stromal tumor Neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Colorectal Neoplasms Pancreatic adenocarcinoma Adenocarcinoma of lung Uterine cervical neoplasms Neoplasm of breast Adrenocortical carcinoma Adenocarcinoma of stomach Malignant melanoma of skin |
Variation | info |
---|
Gene |
GNAS |
CLNDBN |
Somatotroph adenoma Polyostotic fibrous dysplasia, somatic, mosaic Cushing's syndrome McCune-Albright syndrome Sex cord-stromal tumor Neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Colorectal Neoplasms Pancreatic adenocarcinoma Adenocarcinoma of lung Uterine cervical neoplasms Neoplasm of breast Adrenocortical carcinoma Adenocarcinoma of stomach Malignant melanoma of skin |
Reversed |
0 |
HGVS |
NC_000020.10:g.57484420C>A; NC_000020.10:g.57484420C>G; NC_000020.10:g.57484420C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000017297.3, RCV000017298.3, RCV000017299.3, RCV000191991.1, RCV000017310.4, RCV000017287.4, RCV000017288.4, RCV000017289.4, RCV000133503.3, RCV000420084.1, RCV000421422.1, RCV000422043.1, RCV000427542.1, RCV000429524.1, RCV000431495.1, RCV000432295.1, RCV000437784.1, RCV000439728.1, RCV000443647.1, RCV000444862.1, |