Variant (rsID / SNP)

rs144896612

rs144896612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS2. Location: chromosome 6, position 88,228,429. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RARS2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:88228429
Cytoband: 6q15
HGVS: NM_020320.5(RARS2):c.1334A>G (p.Tyr445Cys)
Allele change: Silent

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.