Variant (rsID / SNP)

rs201251634

rs201251634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,287. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARSAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:51065287
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)
Allele change: Missense_P134L

Associated conditions / phenotypes

Metachromatic leukodystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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