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Variant (rsID / SNP)

rs74315459

ARSA

rs74315459 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,064,630. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ARSAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:51064630
Cytoband
22q13.33
HGVS
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)
Allele change
Missense_G225S

Associated conditions / phenotypes

Metachromatic leukodystrophy, late infantile form|Metachromatic leukodystrophy|Pseudoarylsulfatase A deficiency|Abnormality of the nervous system

Public references

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