Variant: rs1060502268

present in Gene: PTCH1 present in Chromosome: 9 Position on Chromosome: 95476835 Alleles of this Variant: C/T

rs1060502268 in PTCH1 gene and Basal Cell Nevus Syndrome PMID 12655573 2003 Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients.

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

PMID 24204797 2013 PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

PMID 16088933 2005 DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.