NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 2, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000208059.1
Allele description [Variation Report for NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)]
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
RecName: Full=FHF complex subunit HOOK interacting protein 2A; Short=FHIP2A
RecName: Full=FHF complex subunit HOOK interacting protein 2A; Short=FHIP2Agi|74747988|sp|Q5W0V3.1|FHI2A_HUMANProtein
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Last Updated: Oct 13, 2024