Variant: rs104894210 

    present in Gene: LOC101929174;CTSC
    present in Chromosome: 11
    Position on Chromosome: 88337557
    Alleles of this Variant: C/G

rs104894210 in LOC101929174;CTSC gene and Papillon-Lefevre Disease PMID 11158173 2001 Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.

PMID 15991336 2005 Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome.

PMID 10662808 2000 Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation.

PMID 25799584 2015 Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.

PMID 11180012 2001 Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene.

PMID 11886537 2001 Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

PMID 11180601 2001 Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.

PMID 10581027 1999 Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

PMID 12112662 2002 Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome.

PMID 15108292 2004 Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs.

PMID 14974080 2004 The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

PMID 12809647 2003 A genetic study of cathepsin C gene in two families with Papillon-Lefèvre syndrome.

PMID 11106356 2000 Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.