Variant (rsID / SNP)

rs201239579

rs201239579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,303,776. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

WFS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:6303776
Cytoband: 4p16.1
HGVS: NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
Allele change: Nonsense_E752X

Associated conditions / phenotypes

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.