NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769113.2
Allele description [Variation Report for NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)]
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
kynurenine/alpha-aminoadipate aminotransferase, mitochondrial [Mus musculus]
kynurenine/alpha-aminoadipate aminotransferase, mitochondrial [Mus musculus]gi|6754408|ref|NP_035964.1|Protein
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Last Updated: Sep 29, 2024