Variant (rsID / SNP)
rs137852849
rs137852849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUMF1. Location: chromosome 3, position 4,458,816. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SUMF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:4458816
- Cytoband
- 3p26.1
- HGVS
- NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
- Allele change
- Missense_A279V
Associated conditions / phenotypes
Multiple sulfatase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.