NM_002047.4(GARS1):c.1062T>C (p.Phe354=) AND Distal spinal muscular atrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000264143.5
Allele description [Variation Report for NM_002047.4(GARS1):c.1062T>C (p.Phe354=)]
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
Condition(s)
- Name:
- Distal spinal muscular atrophy
- Synonyms:
- Distal hereditary motor neuropathy
- Identifiers:
- MONDO: MONDO:0018894; MedGen: C0393541
Assertion and evidence details
Last Updated: Mar 30, 2024