NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455879.1
Allele description [Variation Report for NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)]
NM_001267550.2(TTN):c.94648G>A (p.Glu31550Lys)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
-
PREDICTED: C-terminal-binding protein 1 isoform X1 [Capra hircus]
PREDICTED: C-terminal-binding protein 1 isoform X1 [Capra hircus]gi|1062979261|ref|XP_017905360.1|Protein
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Last Updated: Apr 6, 2024