Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

GNAS

GNAS complex locus

Chromosome
20
Cytoband
20q13.32
Variants (rsID)
28

GNAS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.32). Its official name is “GNAS complex locus”. The reference table lists 28 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs3730170Benignsingle nucleotide variant
  • rs7121Benignsingle nucleotide variantPseudohypoparathyroidism type 1B|Progressive osseous heteroplasia|Pseudopseudohypoparathyroidism|Pseudohypoparathyroidism type 1C|Pseudohypoparathyroidism type I A
  • rs121913495Pathogenicsingle nucleotide variantMcCune-Albright syndrome|Cushing syndrome|Sex cord-stromal tumor|Gastric adenocarcinoma|Adrenal cortex carcinoma|Squamous cell carcinoma of the head and neck|Pancreatic adenocarcinoma|Neoplasm|Hepatocellular carcinoma|Neoplasm of uterine cervix|Malignant melanoma of skin|Lung adenocarcinoma|Neoplasm of the large intestine|Breast neoplasm|Pituitary adenoma 3, multiple types|Pseudohypoparathyroidism type I A

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.