Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs74315472

ARSA

rs74315472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,046. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ARSAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:51065046
Cytoband
22q13.33
HGVS
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
Allele change
Missense_T190M

Associated conditions / phenotypes

Metachromatic leukodystrophy, severe|Metachromatic leukodystrophy

Public references

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