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Variant (rsID / SNP)

rs267606621

AARS1

rs267606621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,302,259. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AARS1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:70302259
Cytoband
16q22.1
HGVS
NM_001605.3(AARS1):c.986G>A (p.Arg329His)
Allele change
Missense_R329H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2N|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.