Variant (rsID / SNP)

rs142668478

rs142668478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,576. Clinical significance in the table: Pathogenic.

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Reference-table entries

WFS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:6303576
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro)
Allele change: Missense_R685H

Associated conditions / phenotypes

Rare genetic deafness

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.