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Variant (rsID / SNP)

rs188848517

WFS1

rs188848517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,302,507. 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
4:6302507
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)
Allele change
Missense_F329I

Associated conditions / phenotypes

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.