NM_002047.4(GARS1):c.562G>A (p.Val188Ile) AND Distal spinal muscular atrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001159467.5
Allele description [Variation Report for NM_002047.4(GARS1):c.562G>A (p.Val188Ile)]
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
Condition(s)
- Name:
- Distal spinal muscular atrophy
- Synonyms:
- Distal hereditary motor neuropathy; Neuronopathy, distal hereditary motor
- Identifiers:
- MONDO: MONDO:0018894; MedGen: C0393541
Assertion and evidence details
Last Updated: Sep 29, 2024