NC_012920.1(MT-CO1):m.6081G>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:
- RCV000853937.1
Allele description [Variation Report for NC_012920.1(MT-CO1):m.6081G>T]
NC_012920.1(MT-CO1):m.6081G>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
-
PREDICTED: Homo sapiens MAX dimerization protein MGA (MGA), transcript variant X...
PREDICTED: Homo sapiens MAX dimerization protein MGA (MGA), transcript variant X30, mRNAgi|2462543387|ref|XM_054377598.1|Nucleotide
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Last Updated: May 19, 2024