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Variant (rsID / SNP)

rs121913495

GNAS

rs121913495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAS. Location: chromosome 20, position 57,484,421. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNASPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:57484421
Cytoband
20q13.32
HGVS
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
Allele change
Silent

Associated conditions / phenotypes

McCune-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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.