rs1578579501
This variant is located in the WFS1 gene.
▶ClinVar annotation
Autosomal dominant nonsyndromic hearing loss 6; WFS1-Related Spectrum Disorders; not provided; Wolfram syndrome 1
View on ClinVar →About WFS1
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
View all WFS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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