NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002568081.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)]
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Rattus norvegicus defective in cullin neddylation 1 domain containing 4 (Dcun1d4...
Rattus norvegicus defective in cullin neddylation 1 domain containing 4 (Dcun1d4), mRNAgi|157821052|ref|NM_001108359.1|Nucleotide
-
Homo sapiens cDNA, FLJ99912
Homo sapiens cDNA, FLJ99912gi|164690743|dbj|AK309871.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024