NM_001267550.2(TTN):c.30511+3G>A AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000768890.4
Allele description [Variation Report for NM_001267550.2(TTN):c.30511+3G>A]
NM_001267550.2(TTN):c.30511+3G>A
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Chain A, ALDEHYDE OXIDOREDUCTASE
Chain A, ALDEHYDE OXIDOREDUCTASEgi|7546429|pdb|1DGJ|AProtein
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Last Updated: Oct 8, 2024