NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) AND Cardiomyopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 9, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001170139.10
Allele description [Variation Report for NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)]
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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PREDICTED: Mus musculus protein kinase, AMP-activated, gamma 2 non-catalytic sub...
PREDICTED: Mus musculus protein kinase, AMP-activated, gamma 2 non-catalytic subunit (Prkag2), transcript variant X12, mRNAgi|1720411827|ref|XM_011249740.2|Nucleotide
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Parioglossus nudus voucher MB0611402 cytochrome b (cytb) gene, partial cds; mito...
Parioglossus nudus voucher MB0611402 cytochrome b (cytb) gene, partial cds; mitochondrialgi|696003815|gb|KM357823.1|Nucleotide
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RecName: Full=5'-AMP-activated protein kinase subunit gamma-2; Short=AMPK gamma2...
RecName: Full=5'-AMP-activated protein kinase subunit gamma-2; Short=AMPK gamma2; Short=AMPK subunit gamma-2gi|341940166|sp|Q91WG5.2|AAKG2_MOUSProtein
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Last Updated: Sep 29, 2024