NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000770367.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=)]
NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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Homo sapiens amylase, alpha 2A; pancreatic (AMY2A), mRNA
Homo sapiens amylase, alpha 2A; pancreatic (AMY2A), mRNAgi|4502084|ref|NM_000699.1|Nucleotide
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blvrb*[Gene Symbol] AND xenopus laevis[Organism] (1)
GEO Profiles
-
succinyl CoA transferase [Mus musculus]
succinyl CoA transferase [Mus musculus]gi|21901971|dbj|BAC05524.1|Protein
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AGENCOURT_26184943 Blumberg_Cho dorsal blastopore lip Xenopus laevis cDNA clone ...
AGENCOURT_26184943 Blumberg_Cho dorsal blastopore lip Xenopus laevis cDNA clone IMAGE:7296584 3', mRNA sequencegi|49491637|gnl|dbEST|23934363|gb|C 35.1|Nucleotide
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BJ097916 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ097916 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL143l15 3', mRNA sequencegi|17599509|gnl|dbEST|10566239|dbj| 916.1|Nucleotide
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Last Updated: Apr 9, 2023