NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000475849.5
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)]
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homo sapiens cDNA FLJ44976 fis, clone BRAWH3001833
Homo sapiens cDNA FLJ44976 fis, clone BRAWH3001833gi|34536291|dbj|AK128758.1|Nucleotide
-
hypothetical protein EE612_010107 [Oryza sativa]
hypothetical protein EE612_010107 [Oryza sativa]gi|1768427399|gb|KAB8086662.1||gnl| PSM|p1.EE612_010107Protein
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Last Updated: Feb 20, 2024