NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001171020.2
Allele description [Variation Report for NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs)]
NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Apr 9, 2023