Variant (rsID / SNP)

rs118203938

rs118203938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,264,918. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ARSBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:78264918
Cytoband: 5q14.1
HGVS: NM_000046.5(ARSB):c.410G>T (p.Gly137Val)
Allele change: Missense_G137V

Associated conditions / phenotypes

Mucopolysaccharidosis, type vi, intermediate|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.