Variant (rsID / SNP)
rs118203944
rs118203944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,135,214. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ARSBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:78135214
- Cytoband
- 5q14.1
- HGVS
- NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
- Allele change
- Missense_H393P
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.