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.