Variant: rs1060502292 

    present in Gene: LOC100507346;PTCH1
    present in Chromosome: 9
    Position on Chromosome: 95468803
    Alleles of this Variant: AG/-

rs1060502292 in LOC100507346;PTCH1 gene and Basal Cell Nevus Syndrome PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

rs1060502292 in LOC100507346;PTCH1 gene and Neoplastic Syndromes, Hereditary PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.