NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004010788.2
Allele description [Variation Report for NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)]
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)
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 potassium voltage-gated channel interacting protein 2 (KCNIP2), tra...
Homo sapiens potassium voltage-gated channel interacting protein 2 (KCNIP2), transcript variant 6, mRNAgi|1677537829|ref|NM_173195.3|Nucleotide
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EPYC epiphycan [Homo sapiens]
EPYC epiphycan [Homo sapiens]Gene ID:1833Gene
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Gene Links for GEO Profiles (Select 65022504) (1)
Gene
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DC177865 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st44o1...
DC177865 Xenopus tropicalis embryo gastrula Xenopus tropicalis cDNA clone st44o17 5', mRNA sequencegi|119153777|gnl|dbEST|43418251|dbj 7865.1|Nucleotide
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Homo sapiens cell surface receptor (PRV1) mRNA, complete cds
Homo sapiens cell surface receptor (PRV1) mRNA, complete cdsgi|9857660|gb|AF146747.1|Nucleotide
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Last Updated: May 7, 2024