Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs74315470

ARSA

rs74315470 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,137. 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
22:51065137
Cytoband
22q13.33
HGVS
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)
Allele change
Missense_R160C

Associated conditions / phenotypes

Metachromatic leukodystrophy

Public references

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