NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000473123.7
Allele description [Variation Report for NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)]
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
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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Gene Links for GEO Profiles (Select 98849247) (2)
Gene
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Taxonomy Links for Nucleotide (Select 1653960402) (1)
Taxonomy
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Compounds, activity concentration at/below 1 uM for PubChem BioAs... (1)
Compounds, activity concentration at/below 1 uM for PubChem BioAssay (Select 1262825)SearchPubChem Compound
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txid498019[orgn] AND "strain Kw197/18"[All Fields] (2)
Nucleotide
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Gene Links for Nucleotide (Select 2217282124) (1)
Gene
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Last Updated: May 1, 2024