NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2011
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000158477.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)]
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
putative AAA ATPase [Trypanosoma theileri]
putative AAA ATPase [Trypanosoma theileri]gi|1624756022|ref|XP_028879792.1|Protein
-
Beta-galactosidase [Fulvia fulva]
Beta-galactosidase [Fulvia fulva]gi|2234814121|ref|XP_047758259.1|Protein
-
LOC4334679 [Oryza sativa Japonica Group]
LOC4334679 [Oryza sativa Japonica Group]Gene ID:4334679Gene
-
Conserved Domain Links for Protein (Select 729990) (2)
Conserved Domains
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Last Updated: Sep 29, 2024