NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) 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:
- RCV000852816.9
Allele description [Variation Report for NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)]
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
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:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
RecName: Full=4-trimethylaminobutyraldehyde dehydrogenase A; Short=TMABA-DH; Sho...
RecName: Full=4-trimethylaminobutyraldehyde dehydrogenase A; Short=TMABA-DH; Short=TMABADH; AltName: Full=Aldehyde dehydrogenase family 9 member A1-Agi|82209620|sp|Q7ZVB2.1|A9A1A_DANREProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 20, 2024