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Variant (rsID / SNP)

rs145144527

WFS1

rs145144527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,280. 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
4:6303280
Cytoband
4p16.1
HGVS
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
Allele change
Synonymous_A586A

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.