Variant: rs138911275 

    present in Gene: PTCH1
    present in Chromosome: 9
    Position on Chromosome: 95458026
    Alleles of this Variant: G/A

rs138911275 in PTCH1 gene and HOLOPROSENCEPHALY 7 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.

PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.