NM_005159.5(ACTC1):c.540G>C (p.Leu180=) AND Cardiomyopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Sep 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001186122.4
Allele description [Variation Report for NM_005159.5(ACTC1):c.540G>C (p.Leu180=)]
NM_005159.5(ACTC1):c.540G>C (p.Leu180=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
ACE angiotensin I converting enzyme [Pan troglodytes]
ACE angiotensin I converting enzyme [Pan troglodytes]Gene ID:449567Gene
-
Metagenomic sequencing of cattle
Metagenomic sequencing of cattleMetagenomic sequencing of the rumen of 240 cattle from ScotlandBioProject
-
BioProject Links for Nucleotide (Select 1810546389) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023