Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs71524353

WFS1

rs71524353 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,302,675. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

WFS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:6302675
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
Allele change
Missense_E385K

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.