Variant (rsID / SNP)
rs137917233
rs137917233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUMF1. Location: chromosome 3, position 4,459,755. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SUMF1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:4459755
- Cytoband
- 3p26.1
- HGVS
- NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
- Allele change
- Missense_G222R
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.