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Variant (rsID / SNP)

rs71539657

WFS1

rs71539657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,282. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WFS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:6303282
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
Allele change
Missense_R587Q

Associated conditions / phenotypes

Monogenic diabetes|WFS1-Related Spectrum Disorders|Autosomal dominant nonsyndromic hearing loss 6

Public references

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