Variant (rsID / SNP)

rs137852646

rs137852646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,668,214. Clinical significance in the table: Pathogenic.

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Reference-table entries

GARS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:30668214
Cytoband: 7p14.3
HGVS: NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
Allele change: Missense_G526R

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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