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Variant (rsID / SNP)

rs771059047

AARS1

rs771059047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,298,872. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:70298872
Cytoband
16q22.1
HGVS
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)
Allele change
Missense_S494I

Associated conditions / phenotypes

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

Public references

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