NM_000256.3(MYBPC3):c.3191-11_3193del AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000768478.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3191-11_3193del]
NM_000256.3(MYBPC3):c.3191-11_3193del
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Bedotia marojejy isolate Bedomaro.1 NADH dehydrogenase subunit 2 (nd2) gene, par...
Bedotia marojejy isolate Bedomaro.1 NADH dehydrogenase subunit 2 (nd2) gene, partial cds; mitochondrialgi|418970824|gb|KC133764.1|Nucleotide
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|16552606|dbj|BAB71352.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022