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NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) AND WFS1-Related Disorders

Significance: Pathogenic
ClinVar: RCV000004780

Variant: NM_006005.3(WFS1):c.2096C>T (p.Thr699Met)

Type: Variant
Allele: NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) 19561
Gene:
Type: single nucleotide variant
Location: Chr4: 6301891 - assembly GRCh38
Chr4: 6303618 - assembly GRCh37
References: dbSNP: 28937894
OMIM: 606201.0016
UniProtKB: O76024#VAR_032964

Condition

Disease: WFS1-Related Disorders

Citation

    Bespalova et al. (2001) and Cryns et al. (2002) described patients with low-frequency sensorineural hearing loss (DFNA6; 600965) due to a 2096C-T nucleotide change in exon 8 of the WFS1 gene, predicting a thr699-to-met (T699M) protein change.
PMID:11709537, PMID:12073007