NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000468936.6
Allele description [Variation Report for NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu)]
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu)
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
-
TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform X1 [Megalobrama...
TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform X1 [Megalobrama amblycephala]gi|2238776239|ref|XP_048064346.1|Protein
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Last Updated: May 1, 2024