Variant: rs104893650 

    present in Gene: PAX3;CCDC140
    present in Chromosome: 2
    Position on Chromosome: 222297150
    Alleles of this Variant: G/A

rs104893650 in PAX3;CCDC140 gene and Waardenburg Syndrome Type 1 PMID 9541113 1998 Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

PMID 8490648 1993 Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

PMID 10779847 2000 Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

PMID 1347148 1992 Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

PMID 8447316 1993 Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

PMID 16971891 2006 A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

PMID 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

PMID 9452070 1998 Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).

PMID 1347149 1992 An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

PMID 8533800 1995 Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

PMID 7825605 1995 Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.

PMID 9067759 1997 Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.

PMID 24651602 2014 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.

PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 21965087 2012 Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

PMID 7833953 1994 A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1).

PMID 1303193 1992 A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.

PMID 20478267 2010 Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

PMID 7981674 1994 PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

PMID 8845842 1996 Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?