NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) AND Cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000773292.9
Allele description [Variation Report for NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)]
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
essv16438437 (2)
dbVar
-
essv16438385 (2)
dbVar
-
essv16438162 (2)
dbVar
-
essv16437948 (2)
dbVar
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Last Updated: Oct 8, 2024