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Variant (rsID / SNP)

rs147834269

WFS1

rs147834269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,731. 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
4:6303731
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
Allele change
Missense_E737K

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 6|WFS1-Related Spectrum Disorders|Wolfram syndrome 1

Public references

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