present in Gene: PTCH2
present in Chromosome: 1
Position on Chromosome: 44827617
Alleles of this Variant: C/T
rs121434397 in
PTCH2 gene and
Basal Cell Nevus Syndrome
PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 18285427 2008 A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
PMID 23479190 2013 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.