Variant: rs121913679 

    present in Gene: KIT
    present in Chromosome: 4
    Position on Chromosome: 54728121
    Alleles of this Variant: G/A

rs121913679 in KIT gene and Piebaldism PMID 9450866 1998 Piebaldism with deafness: molecular evidence for an expanded syndrome.

PMID 9699740 1998 A novel KIT gene missense mutation in a Japanese family with piebaldism.

PMID 8680409 1995 A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.

PMID 1717985 1991 Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

PMID 7687267 1993 Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

PMID 1370874 1992 Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

PMID 11074500 2000 Three novel mutations of the proto-oncogene KIT cause human piebaldism.

PMID 1376329 1992 Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.