NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) AND Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001145653.4
Allele description [Variation Report for NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)]
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)
Condition(s)
- Name:
- Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (MC4DN2)
- Synonyms:
- CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
- Identifiers:
- MONDO: MONDO:0011451; MedGen: C5399977; Orphanet: 1561; OMIM: 604377
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Rangifer tarandus isolate DF-B-001, whole genome shotgun sequencing projectgi|2202952844|gb|JAJJMQ000000000.1| Q010000000Nucleotide
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Zea mays isolate VaW6 stiff1 gene, promoter region
Zea mays isolate VaW6 stiff1 gene, promoter regiongi|1775876066|gb|MK748787.1|Nucleotide
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Homo sapiens inositol 1,4,5-trisphosphate receptor type 2 (ITPR2), transcript va...
Homo sapiens inositol 1,4,5-trisphosphate receptor type 2 (ITPR2), transcript variant 1, mRNAgi|1519243372|ref|NM_002223.4|Nucleotide
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Specific Protein Links for Conserved Domains (Select 406849) (0)
Protein
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Taxonomy Links for Protein (Select 566006146) (1)
Taxonomy
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Last Updated: May 1, 2024