Variant (rsID / SNP)

rs199476382

rs199476382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,064,623. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ARSAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:51064623
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)
Allele change: Missense_R227Q

Associated conditions / phenotypes

Metachromatic leukodystrophy

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.