Variant (rsID / SNP)

rs144222167

rs144222167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,076,449. 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: 5:78076449
Cytoband: 5q14.1
HGVS: NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
Allele change: Missense_N458S

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.