Variant: rs121917853 

    present in Gene: IHH
    present in Chromosome: 2
    Position on Chromosome: 219057619
    Alleles of this Variant: C/T

rs121917853 in IHH gene and BRACHYDACTYLY, TYPE A1 (disorder) PMID 12384778 2002 A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

PMID 11455389 2001 Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

PMID 21537345 2011 In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).