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Variant (rsID / SNP)

rs201399681

GARS1

rs201399681 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,649,231. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:30649231
Cytoband
7p14.3
HGVS
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
Allele change
Missense_D202H

Associated conditions / phenotypes

Distal spinal muscular atrophy|Charcot-Marie-Tooth disease type 2D|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2

Public references

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