present in Gene: GNAS
present in Chromosome: 20
Position on Chromosome: 58910818
Alleles of this Variant: G/A;T
rs397514456 in
GNAS gene and
Pseudohypoparathyroidism Type 1C
PMID 21488135 2011 Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.