NC_012920.1(MT-ND6):m.14597A>G AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 22, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000191107.1
Allele description [Variation Report for NC_012920.1(MT-ND6):m.14597A>G]
NC_012920.1(MT-ND6):m.14597A>G
Condition(s)
- Name:
- Dystonic disorder
- Synonyms:
- Dystonia
- Identifiers:
- MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
- Name:
- Dysarthria
- Identifiers:
- MedGen: C0013362; Human Phenotype Ontology: HP:0001260
Assertion and evidence details
Last Updated: May 19, 2024