Variant: rs199476092 

    present in Gene: PTCH1;LOC100507346
    present in Chromosome: 9
    Position on Chromosome: 95467197
    Alleles of this Variant: T/C

rs199476092 in PTCH1;LOC100507346 gene and HOLOPROSENCEPHALY 7 PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.