Variant (rsID / SNP)

rs199644417

rs199644417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,293,051. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AARS1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:70293051
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.1824G>A (p.Thr608=)
Allele change: Synonymous_T608T

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2N

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.