Variant (rsID / SNP)

rs147027229

rs147027229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,064,469. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARSABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:51064469
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
Allele change: Synonymous_S248S

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.