Variant (rsID / SNP)

rs28940893

rs28940893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,063,820. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARSAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 22:51063820
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
Allele change: Missense_P342L

Associated conditions / phenotypes

Metachromatic leukodystrophy, juvenile type|Arylsulfatase a, allele a|Metachromatic leukodystrophy, adult type|Metachromatic leukodystrophy|Intellectual disability

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.