Variant: rs104894271 

    present in Gene: PTH
    present in Chromosome: 11
    Position on Chromosome: 13492804
    Alleles of this Variant: A/G

rs104894271 in PTH gene and Hypoparathyroidism familial isolated PMID 18056632 2007 Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

PMID 10523031 1999 A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.

PMID 2212001 1990 Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.