Variant (rsID / SNP)

rs28937892

rs28937892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,033. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WFS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:6303033
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)
Allele change: Missense_P504L

Associated conditions / phenotypes

Wolfram syndrome 1|Wolfram syndrome 1|Wolfram-like syndrome

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.