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Variant (rsID / SNP)

rs397514441

ARSB

rs397514441 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,280,857. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARSBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:78280857
Cytoband
5q14.1
HGVS
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
Allele change
Missense_L72Q

Associated conditions / phenotypes

Mucopolysaccharidosis, type vi, severe|Mucopolysaccharidosis type 6

Public references

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