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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Colletotrichum spaethianum uncharacterized protein (ColSpa_11907), partial mRNA
Colletotrichum spaethianum uncharacterized protein (ColSpa_11907), partial mRNAgi|2272229113|ref|XM_049278119.1|Nucleotide
-
Colletotrichum spaethianum uncharacterized protein (ColSpa_11902), partial mRNA
Colletotrichum spaethianum uncharacterized protein (ColSpa_11902), partial mRNAgi|2272229100|ref|XM_049278114.1|Nucleotide
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Colletotrichum spaethianum uncharacterized protein (ColSpa_11947), partial mRNA
Colletotrichum spaethianum uncharacterized protein (ColSpa_11947), partial mRNAgi|2272229222|ref|XM_049278159.1|Nucleotide
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Colletotrichum spaethianum uncharacterized protein (ColSpa_11901), partial mRNA
Colletotrichum spaethianum uncharacterized protein (ColSpa_11901), partial mRNAgi|2272229098|ref|XM_049278113.1|Nucleotide
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Colletotrichum spaethianum putative exopolygalacturonase X (ColSpa_11948), parti...
Colletotrichum spaethianum putative exopolygalacturonase X (ColSpa_11948), partial mRNAgi|2272229225|ref|XM_049278160.1|Nucleotide
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Last Updated: Sep 29, 2024