Variant (rsID / SNP)

rs431905495

rs431905495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,135,250. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARSBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:78135250
Cytoband: 5q14.1
HGVS: NM_000046.5(ARSB):c.1143-1G>C
Allele change: Silent

Associated conditions / phenotypes

Mucopolysaccharidosis type 6

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.