NC_012920.1(MT-ATP6):m.8686T>C AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000709918.1
Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8686T>C]
NC_012920.1(MT-ATP6):m.8686T>C
Condition(s)
- Name:
- Leber optic atrophy (LHON)
- Synonyms:
- Optic Atrophy, Hereditary, Leber; Leber hereditary optic neuropathy; Leber's disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112
- Name:
- NARP syndrome
- Synonyms:
- Neuropathy ataxia retinitis pigmentosa syndrome
- Identifiers:
- MONDO: MONDO:0010794; MedGen: C1328349; Orphanet: 644; OMIM: 551500
- Name:
- Mitochondrial DNA-Associated Leigh Syndrome and NARP
- Identifiers:
- MedGen: CN043634
Assertion and evidence details
Last Updated: May 19, 2024