Variant (rsID / SNP)
rs813811
rs813811 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUMF1. Location: chromosome 3, position 4,452,737. Clinical significance in the table: Benign.
Reference-table entries
SUMF1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:4452737
- Cytoband
- 3p26.1
- HGVS
- NM_182760.4(SUMF1):c.841-75C>T
- Allele change
- Silent
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.