NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001805691.3
Allele description [Variation Report for NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)]
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
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PubChem Compound Links for Structure (Select 126875) (3)
PubChem Compound
-
N-terminal kinase-like protein isoform 18 [Homo sapiens]
N-terminal kinase-like protein isoform 18 [Homo sapiens]gi|2613658037|ref|NP_001412122.1|Protein
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Nucleotide Links for Protein (Select 299829246) (3)
Nucleotide
-
PREDICTED: Pteronotus mesoamericanus EPS8 signaling adaptor L3 (EPS8L3), mRNA
PREDICTED: Pteronotus mesoamericanus EPS8 signaling adaptor L3 (EPS8L3), mRNAgi|2466570404|ref|XM_054565104.1|Nucleotide
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txid1502[Organism:noexp] AND (pcassay_protein_target[filt]) AND (... (3)
txid1502[Organism:noexp] AND (pcassay_protein_target[filt]) AND (pcassay_pccompound_activityconcnanomolar[filt])SearchPubChem BioAssay
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024