Variant (rsID / SNP)

rs752100338

rs752100338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,302,812. 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: 4:6302812
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
Allele change: Synonymous_S430S

Associated conditions / phenotypes

WFS1-Related Spectrum Disorders|Nonsyndromic Hearing Loss, Dominant

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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