Variant (rsID / SNP)

rs149377346

rs149377346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,286,740. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AARS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:70286740
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser)
Allele change: Missense_G931S

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.