Variant: rs397514456

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.