NM_001458.5(FLNC):c.6023dup (p.Glu2009fs) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463867.1
Allele description [Variation Report for NM_001458.5(FLNC):c.6023dup (p.Glu2009fs)]
NM_001458.5(FLNC):c.6023dup (p.Glu2009fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]
conserved oligomeric Golgi complex subunit 5 [Leguminivora glycinivorella]gi|2237288970|ref|XP_047995982.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022