NM_170707.4(LMNA):c.566G>A (p.Arg189Gln) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004000578.2
Allele description [Variation Report for NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)]
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
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Homo sapiens wingless-type MMTV integration site family, member 1, mRNA (cDNA cl...
Homo sapiens wingless-type MMTV integration site family, member 1, mRNA (cDNA clone MGC:104071 IMAGE:30915522), complete cdsgi|50959872|gb|BC074798.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024