Database of Pathogenic Variants
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Gene Detail
Gene Symbol
WFS1
Gene:7466
HGNC:12762
Gene Name
wolframin ER transmembrane glycoprotein
Chromosome
4
Cytogenetic Band
p16.1
RefSeq Accession
NM_001145853
Associated Diseases
Deafness, autosomal dominant, 6
Associated Variants
NM_006005.3:c.2590G>A
NM_006005.3:c.2389G>A
NM_006005.3:c.1480G>A
NM_006005.3:c.2507A>C
NM_006005.3:c.2576G>C