Variant: rs587776689 

    present in Gene: PTCH1
    present in Chromosome: 9
    Position on Chromosome: 95453587
    Alleles of this Variant: T/A;G

rs587776689 in PTCH1 gene and BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 PMID 8658145 1996 Human homolog of patched, a candidate gene for the basal cell nevus syndrome.

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

rs587776689 in PTCH1 gene and Basal Cell Nevus Syndrome PMID 15459969 2004 Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

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 8840969 1996 Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.

PMID 9620294 1998 Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome.

PMID 11231326 2001 Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer.