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Variant (rsID / SNP)

rs74315205

WFS1

rs74315205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,304,112. 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
4:6304112
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
Allele change
Missense_E864K

Associated conditions / phenotypes

Wolfram-like syndrome|Autosomal dominant nonsyndromic hearing loss 6|Rare genetic deafness|Wolfram syndrome 1|Nonsyndromic genetic hearing loss

Public references

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