Variant (rsID / SNP)
rs192443850
rs192443850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GARS1. Location: chromosome 7, position 30,655,580. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GARS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:30655580
- Cytoband
- 7p14.3
- HGVS
- NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
- Allele change
- Missense_N313S
Associated conditions / phenotypes
Distal spinal muscular atrophy|Neuronopathy, distal hereditary motor, type 5A|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.