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Variant (rsID / SNP)

rs200887429

GARS1

rs200887429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,638,491. 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
7:30638491
Cytoband
7p14.3
HGVS
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
Allele change
Missense_R47H

Associated conditions / phenotypes

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

Public references

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