NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) AND Cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003531994.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)]
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
SNORD4A small nucleolar RNA, C/D box 4A [Homo sapiens]
SNORD4A small nucleolar RNA, C/D box 4A [Homo sapiens]Gene ID:26773Gene
-
Gene Links for GEO Profiles (Select 84251501) (1)
Gene
-
RPL23A ribosomal protein L23a [Homo sapiens]
RPL23A ribosomal protein L23a [Homo sapiens]Gene ID:6147Gene
-
Gene Links for GEO Profiles (Select 84251499) (1)
Gene
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Last Updated: Sep 29, 2024