NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852902.9
Allele description [Variation Report for NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)]
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
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
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MedGen: C0349788
- Name:
- Atrial fibrillation
- Identifiers:
- EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110
Assertion and evidence details
Last Updated: Apr 20, 2024