Variant: rs372855769 

    present in Gene: WFS1;LOC107986257
    present in Chromosome: 4
    Position on Chromosome: 6302449
    Alleles of this Variant: C/T

rs372855769 in WFS1;LOC107986257 gene and Wolfram Syndrome 1 PMID 15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PMID 9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PMID 11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PMID 9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

PMID 22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.