NC_012920.1:m.3243A>G AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763623.2
Allele description [Variation Report for NC_012920.1:m.3243A>G]
NC_012920.1:m.3243A>G
Condition(s)
- Name:
- MERRF syndrome (MERRF)
- Synonyms:
- Myoclonus with epilepsy with ragged red fibers; Myoclonic epilepsy associated with ragged-red fibers; Fukuhara syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010790; MedGen: C0162672; Orphanet: 551; OMIM: 545000
Assertion and evidence details
Last Updated: Apr 20, 2024