NM_000256.3(MYBPC3):c.1194del (p.Asn399fs) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001999735.4
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)]
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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elongation factor 1 alpha, partial [Cephalotes pallidus]
elongation factor 1 alpha, partial [Cephalotes pallidus]gi|431923587|gb|AGA94690.1|Protein
-
hypothetical protein [Corynebacterium glutamicum]
hypothetical protein [Corynebacterium glutamicum]gi|499584976|ref|WP_011265759.1|Protein
-
C1orf151 protein, partial [Homo sapiens]
C1orf151 protein, partial [Homo sapiens]gi|14602856|gb|AAH09927.1|Protein
-
MULTISPECIES: ABC transporter ATP-binding protein [Yersinia pseudotuberculosis c...
MULTISPECIES: ABC transporter ATP-binding protein [Yersinia pseudotuberculosis complex]gi|488138072|ref|WP_002209280.1|Protein
-
DASS family sodium-coupled anion symporter [Geobacter metallireducens]
DASS family sodium-coupled anion symporter [Geobacter metallireducens]gi|490649564|ref|WP_004514559.1|Protein
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Last Updated: Sep 29, 2024