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Variant (rsID / SNP)

rs576221121

AARS1

rs576221121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,303,579. 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
16:70303579
Cytoband
16q22.1
HGVS
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
Allele change
Missense_A302T

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.