Variant (rsID / SNP)

rs141840552

rs141840552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,304,215. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AARS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:70304215
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
Allele change: Missense_P234S

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2|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.