Variant (rsID / SNP)

rs1071598

rs1071598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSB. Location: chromosome 5, position 78,181,423. Clinical significance in the table: Benign.

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Reference-table entries

ARSBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:78181423
Cytoband: 5q14.1
HGVS: NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
Allele change: Missense_V376M

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.