present in Gene: WFS1
present in Chromosome: 4
Position on Chromosome: 6301846
Alleles of this Variant: C/G;T
rs387906930 in
WFS1 gene and
Wolfram Syndrome 1
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 26875006 2016 Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.
PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.
PMID 21067485 2010 Congenital cataracts in two siblings with Wolfram syndrome.
PMID 22238590 2012 Wolfram syndrome: new mutations, different phenotype.
PMID 26435059 2015 Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
rs387906930 in
WFS1 gene and
Wolfram-Like Syndrome, Autosomal Dominant
PMID 16648378 2006 Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
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 20069065 2010 Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.