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:
- RCV002568081.2
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
-
1544992[uid] (1)
Taxonomy
-
cleavage and polyadenylation specificity factor subunit 7 isoform 2 [Homo sapien...
cleavage and polyadenylation specificity factor subunit 7 isoform 2 [Homo sapiens]gi|209862881|ref|NP_001129512.1|Protein
-
retinol dehydrogenase 16 [Mus musculus]
retinol dehydrogenase 16 [Mus musculus]gi|6677697|ref|NP_033066.1|Protein
-
Mus musculus zinc finger and BTB domain containing 7B, mRNA (cDNA clone MGC:5138...
Mus musculus zinc finger and BTB domain containing 7B, mRNA (cDNA clone MGC:51385 IMAGE:4946243), complete cdsgi|28386106|gb|BC046533.1|Nucleotide
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Last Updated: Sep 29, 2024