Variant (rsID / SNP)

rs200058166

rs200058166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,215. Clinical significance in the table: Uncertain significance.

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Reference-table entries

WFS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:6303215
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.1693C>G (p.Leu565Val)
Allele change: Missense_L565V

Associated conditions / phenotypes

Wolfram-like syndrome|Wolfram syndrome 1

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.