Variant (rsID / SNP)

rs62636572

rs62636572 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,634,548. 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: 7:30634548
Cytoband: 7p14.3
HGVS: NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
Allele change: Silent

Associated conditions / phenotypes

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