NM_000258.3(MYL3):c.280C>T (p.Arg94Cys) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000233649.13
Allele description [Variation Report for NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)]
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)
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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ASM240605v1 - Genome - Assembly - NCBI
ASM240605v1 - Genome - Assembly - NCBIAssembly
-
ASM1480408v1 - Genome - Assembly - NCBI
ASM1480408v1 - Genome - Assembly - NCBIAssembly
-
Mus musculus RIKEN cDNA 2510001A17 gene (2510001A17Rik), mRNA
Mus musculus RIKEN cDNA 2510001A17 gene (2510001A17Rik), mRNAgi|21313253|ref|NM_029665.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 23, 2024