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Variant (rsID / SNP)

rs71530923

WFS1

rs71530923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,279,306. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WFS1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:6279306
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
Allele change
Nonsense_R42X

Associated conditions / phenotypes

Wolfram syndrome 1|Wolfram-like syndrome|Wolfram syndrome 1|Autosomal dominant nonsyndromic hearing loss 6|Type 2 diabetes mellitus|Wolfram-like syndrome|Cataract 41|Wolfram syndrome 1|Autosomal dominant nonsyndromic hearing loss 6|Type 2 diabetes mellitus

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.