NC_012920.1(MT-ATP8):m.8480C>T AND Leigh syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000854203.1
Allele description [Variation Report for NC_012920.1(MT-ATP8):m.8480C>T]
NC_012920.1(MT-ATP8):m.8480C>T
Condition(s)
- Name:
- Leigh syndrome (NULS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
-
Flavonifractor sp. An82 An82_contig_6, whole genome shotgun sequence
Flavonifractor sp. An82 An82_contig_6, whole genome shotgun sequencegi|1199606665|ref|NZ_NFHG01000006.1 |WGS:NZ_NFHG01|An82_contig_6Nucleotide
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Last Updated: May 19, 2024