NM_005159.5(ACTC1):c.455-12T>C AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004009462.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.455-12T>C]
NM_005159.5(ACTC1):c.455-12T>C
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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short-chain oxidoreductase [Saccharobesus litoralis]
short-chain oxidoreductase [Saccharobesus litoralis]gi|1379579554|gnl|PRJNA431529|C2869 0|gb|AWB66130.1|Protein
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Bos taurus fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae), mRN...
Bos taurus fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae), mRNA (cDNA clone MGC:127603 IMAGE:7947895), complete cdsgi|74354083|gb|BC102383.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024