Variant: rs1060502273

present in Gene: PTCH1 present in Chromosome: 9 Position on Chromosome: 95453562 Alleles of this Variant: AT/-

rs1060502273 in 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.