Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs2071421

ARSA

rs2071421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,064,416. Clinical significance in the table: Benign/Likely benign; other.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ARSABenign
Clinical significance (as recorded)
Benign/Likely benign; other
Variant type
single nucleotide variant
Chromosome / position
22:51064416
Cytoband
22q13.33
HGVS
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
Allele change
Missense_N266S

Associated conditions / phenotypes

ARYLSULFATASE A POLYMORPHISM|Metachromatic leukodystrophy|Metachromatic leukodystrophy, juvenile type

Public references

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