NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) AND Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415576.3
Allele description [Variation Report for NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)]
NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)
Condition(s)
Assertion and evidence details
Last Updated: Jan 26, 2024