Variant (rsID / SNP)
rs113446173
rs113446173 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,302,893. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WFS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:6302893
- Cytoband
- 4p16.1
- HGVS
- NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
- Allele change
- Missense_R457S
Associated conditions / phenotypes
Autosomal dominant nonsyndromic hearing loss 6|Type 2 diabetes mellitus|Wolfram syndrome 1|Cataract 41|Wolfram-like syndrome|Autosomal dominant nonsyndromic hearing loss 6|WFS1-Related Spectrum Disorders|Monogenic diabetes|Hearing impairment|Spastic ataxia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.