Variant (rsID / SNP)

rs7121

rs7121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAS. Location: chromosome 20, position 57,478,807. Clinical significance in the table: Benign.

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Reference-table entries

GNASBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:57478807
Cytoband: 20q13.32
HGVS: NM_000516.7(GNAS):c.393C>T (p.Ile131=)
Allele change: Silent

Associated conditions / phenotypes

Pseudohypoparathyroidism type 1B|Progressive osseous heteroplasia|Pseudopseudohypoparathyroidism|Pseudohypoparathyroidism type 1C|Pseudohypoparathyroidism type I A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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