Variant (rsID / SNP)
rs118203943
rs118203943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,260,300. Clinical significance in the table: Pathogenic.
Reference-table entries
ARSBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:78260300
- Cytoband
- 5q14.1
- HGVS
- NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
- Allele change
- Missense_Y210C
Associated conditions / phenotypes
Mucopolysaccharidosis type 6|Metachromatic leukodystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.