Variant (rsID / SNP)
rs141585847
rs141585847 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WFS1. Location: chromosome 4, position 6,302,838. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
WFS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:6302838
- Cytoband
- 4p16.1
- HGVS
- NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys)
- Allele change
- Missense_F439C
Associated conditions / phenotypes
Hearing impairment
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.