NC_012920.1(MT-CYB):m.16002T>C AND MERRF syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002249545.1
Allele description [Variation Report for NC_012920.1(MT-CYB):m.16002T>C]
NC_012920.1(MT-CYB):m.16002T>C
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
-
Homo sapiens regulatory associated protein of MTOR complex 1 (RPTOR), transcript...
Homo sapiens regulatory associated protein of MTOR complex 1 (RPTOR), transcript variant 1, mRNAgi|92373520|ref|NM_020761.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022