NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996214.2
Allele description [Variation Report for NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys)]
NM_000257.4(MYH7):c.4838G>A (p.Arg1613Lys)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
acid-sensing ion channel 3 isoform c [Homo sapiens]
acid-sensing ion channel 3 isoform c [Homo sapiens]gi|9998948|ref|NP_064718.1|Protein
-
myotubularin-related protein 12 isoform 1 [Homo sapiens]
myotubularin-related protein 12 isoform 1 [Homo sapiens]gi|94721263|ref|NP_001035536.1|Protein
-
Platelet Transfusion
Platelet TransfusionThe transfer of blood platelets from a donor to a recipient or reinfusion to the donor.<br/>Year introduced: 1994MeSH
-
Metabolome
MetabolomeThe dynamic collection of metabolites which represent a cell's or organism's net metabolic response to current conditions.<br/>Year introduced: 2009MeSH
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024