NM_001005242.3(PKP2):c.1406A>T (p.Asp469Val) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001524716.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.1406A>T (p.Asp469Val)]
NM_001005242.3(PKP2):c.1406A>T (p.Asp469Val)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Gm34029 predicted gene, 34029 [Mus musculus]
Gm34029 predicted gene, 34029 [Mus musculus]Gene ID:102637145Gene
-
Gm34029 AND (alive[prop]) (1)
Gene
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Last Updated: Dec 24, 2023