NM_001018005.2(TPM1):c.115-261C>T AND Cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 26, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001187852.2
Allele description [Variation Report for NM_001018005.2(TPM1):c.115-261C>T]
NM_001018005.2(TPM1):c.115-261C>T
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
RecName: Full=Probable NAD(P)H-dependent D-xylose reductase xyl1; Short=XR
RecName: Full=Probable NAD(P)H-dependent D-xylose reductase xyl1; Short=XRgi|294863172|sp|B8N195.1|XYL1_ASPFNProtein
-
RecName: Full=Gap junction beta-4 protein; AltName: Full=Connexin-30.3; Short=Cx...
RecName: Full=Gap junction beta-4 protein; AltName: Full=Connexin-30.3; Short=Cx30.3gi|12229761|sp|Q9NTQ9.1|CXB4_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Mar 11, 2023