NM_001005242.3(PKP2):c.232C>A (p.His78Asn) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001176960.4
Allele description [Variation Report for NM_001005242.3(PKP2):c.232C>A (p.His78Asn)]
NM_001005242.3(PKP2):c.232C>A (p.His78Asn)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
COX2 [Oncorhynchus gorbuscha]
COX2 [Oncorhynchus gorbuscha]Gene ID:6383209Gene
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Last Updated: Feb 20, 2024