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Variant (rsID / SNP)

rs74315483

ARSA

rs74315483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,110. 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
22:51065110
Cytoband
22q13.33
HGVS
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)
Allele change
Missense_E169K

Associated conditions / phenotypes

Metachromatic leukodystrophy, late infantile form|Metachromatic leukodystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.