NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003619662.2
Allele description [Variation Report for NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His)]
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His)
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
-
RecName: Full=RPA-interacting protein; Short=hRIP
RecName: Full=RPA-interacting protein; Short=hRIPgi|1375381442|sp|Q86UA6.2|RIP_HUMANProtein
-
mRNA cap guanine-N7 methyltransferase [Caenorhabditis elegans]
mRNA cap guanine-N7 methyltransferase [Caenorhabditis elegans]gi|71980935|ref|NP_492674.2|Protein
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Last Updated: Sep 29, 2024