Variant (rsID / SNP)

rs11537667

rs11537667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,303,659. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AARS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:70303659
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
Allele change: Missense_G275D

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.