NM_001349.4(DARS1):c.1379G>A (p.Arg460His) AND Hypomyelination with brain stem and spinal cord involvement and leg spasticity
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 2, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000043686.5
Allele description [Variation Report for NM_001349.4(DARS1):c.1379G>A (p.Arg460His)]
NM_001349.4(DARS1):c.1379G>A (p.Arg460His)
Condition(s)
Assertion and evidence details
Last Updated: Nov 19, 2022