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Variant (rsID / SNP)

rs2230310

GARS1

rs2230310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,649,268. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GARS1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
7:30649268
Cytoband
7p14.3
HGVS
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
Allele change
Missense_T214I

Associated conditions / phenotypes

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

Public references

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