NM_001303.4(COX10):c.*1367G>A AND Leigh syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000389123.5
Allele description [Variation Report for NM_001303.4(COX10):c.*1367G>A]
NM_001303.4(COX10):c.*1367G>A
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
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Grapevine leafroll-associated virus 1 methyl transferase/helicase (MET/HEL) gene...
Grapevine leafroll-associated virus 1 methyl transferase/helicase (MET/HEL) gene, complete cds; RNA-dependent RNA polymerase (Rdrp) gene, partial cds; and p7 (ORF2), hsp70-like protein (HSP70), p55 (ORF4), coat protein (CP), coat protein duplicate 1 (CPd1), coat protein duplicate 2 (CPd2), p21 (ORF8), and p24 (ORF9) genes, complete cds.PopSet: 2672114931PopSet
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Chain A, Metallo-beta-lactamase L1
Chain A, Metallo-beta-lactamase L1gi|2112436768|pdb|7O0O|AProtein
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Chain A, Beta-lactamase
Chain A, Beta-lactamasegi|1243913835|pdb|5NE2|AProtein
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Last Updated: Jun 9, 2024