Variant (rsID / SNP)

rs137852643

rs137852643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,649,345. 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: 7:30649345
Cytoband: 7p14.3
HGVS: NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
Allele change: Missense_G240R

Associated conditions / phenotypes

Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease

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.