Variant (rsID / SNP)

rs200279483

rs200279483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,639,646. 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: 7:30639646
Cytoband: 7p14.3
HGVS: NM_002047.4(GARS1):c.408A>G (p.Gln136=)
Allele change: Synonymous_Q82Q

Associated conditions / phenotypes

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.