NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769390.3
Allele description [Variation Report for NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)]
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Protein Links for PopSet (Select 1139715339) (28)
Protein
-
Mus musculus strain C57BL/6J chromosome 8, GRCm39
Mus musculus strain C57BL/6J chromosome 8, GRCm39gi|1877089961|gnl|ASM:GCF_000000055 f|NC_000074.7||gpp|GPC_000007820.1||gnl|NCBI_GENOMES|76Nucleotide
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Last Updated: May 1, 2024