Variant (rsID / SNP)
rs25413
rs25413 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,135,201. Clinical significance in the table: Benign.
Reference-table entries
ARSBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:78135201
- Cytoband
- 5q14.1
- HGVS
- NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
- Allele change
- Synonymous_P397P
Associated conditions / phenotypes
Mucopolysaccharidosis type 6
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.