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Variant (rsID / SNP)

rs118203941

ARSB

rs118203941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,077,797. 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
5:78077797
Cytoband
5q14.1
HGVS
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
Allele change
Missense_C405Y

Associated conditions / phenotypes

Mucopolysaccharidosis, type vi, severe|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.