NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) AND Primary dilated cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085554.7
Allele description [Variation Report for NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)]
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
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
-
HSPA8 heat shock protein family A (Hsp70) member 8 [Homo sapiens]
HSPA8 heat shock protein family A (Hsp70) member 8 [Homo sapiens]Gene ID:3312Gene
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Last Updated: Aug 4, 2024