NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Primary dilated cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003996512.2
Allele description [Variation Report for NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)]
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
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
-
CBWN1695.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8853905 3', mR...
CBWN1695.g1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8853905 3', mRNA sequencegi|133780787|gnl|dbEST|45210393|gb| 433.1|Nucleotide
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Last Updated: Sep 16, 2024