m.3635G>A AND Leber optic atrophy
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- 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:
- RCV000055707.5
Allele description [Variation Report for m.3635G>A]
m.3635G>A
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
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Anaplasma phagocytophilum isolate dog_1816 16S ribosomal RNA gene, partial seque...
Anaplasma phagocytophilum isolate dog_1816 16S ribosomal RNA gene, partial sequencegi|281494924|gb|GU236665.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 9, 2023