NM_000258.3(MYL3):c.170C>T (p.Ala57Val) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000792858.6
Allele description [Variation Report for NM_000258.3(MYL3):c.170C>T (p.Ala57Val)]
NM_000258.3(MYL3):c.170C>T (p.Ala57Val)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Mus musculus RIKEN cDNA 1700025E21 gene, mRNA (cDNA clone MGC:58810 IMAGE:677325...
Mus musculus RIKEN cDNA 1700025E21 gene, mRNA (cDNA clone MGC:58810 IMAGE:6773255), complete cdsgi|29437086|gb|BC049755.1|Nucleotide
-
Mus musculus cDNA sequence BC030477, mRNA (cDNA clone IMAGE:5368143)
Mus musculus cDNA sequence BC030477, mRNA (cDNA clone IMAGE:5368143)gi|22539681|gb|BC030477.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024