NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) AND Cardiomyopathy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 8, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852705.9
Allele description [Variation Report for NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)]
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
amino acid transporter heavy chain SLC3A2 isoform f [Homo sapiens]
amino acid transporter heavy chain SLC3A2 isoform f [Homo sapiens]gi|61744483|ref|NP_001013269.1|Protein
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Last Updated: Oct 26, 2024