present in Gene: PAX3;CCDC140
present in Chromosome: 2
Position on Chromosome: 222297031
Alleles of this Variant: A/G
rs104893654 in
PAX3;CCDC140 gene and
Klein's Syndrome
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 12949970 2003 Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
PMID 7726174 1995 Homozygosity for Waardenburg syndrome.