Variant: rs1553704814 

    present in Gene: MITF
    present in Chromosome: 3
    Position on Chromosome: 69956461
    Alleles of this Variant: AGA/-

rs1553704814 in MITF gene and Waardenburg Syndrome PMID 22258527 2012 Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

PMID 29115496 2018 Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

PMID 24194866 2013 Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

PMID 27889061 2016 Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

PMID 20485200 2010 Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.

PMID 29094203 2017 Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.

PMID 27073475 2016 A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

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

PMID 8589691 1995 The mutational spectrum in Waardenburg syndrome.

PMID 29531335 2018 Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

PMID 26781036 2016 Clinical and genetic investigation of families with type II Waardenburg syndrome.