NM_001005242.3(PKP2):c.1352A>T (p.Asp451Val) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004014030.2
Allele description [Variation Report for NM_001005242.3(PKP2):c.1352A>T (p.Asp451Val)]
NM_001005242.3(PKP2):c.1352A>T (p.Asp451Val)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
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Mus musculus, clone IMAGE:3983821, mRNA, partial cds
Mus musculus, clone IMAGE:3983821, mRNA, partial cdsgi|18256103|gb|BC021831.1|Nucleotide
-
Xenopus laevis strain J_2021 chromosome 1S, Xenopus_laevis_v10.1, whole genome s...
Xenopus laevis strain J_2021 chromosome 1S, Xenopus_laevis_v10.1, whole genome shotgun sequencegi|2026599759|gnl|ASM:GCF_017654685 S|ref|NC_054372.1||gpp|GPC_000010059.1||gnl|NCBI_GENOMES|105389Nucleotide
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RecName: Full=Zinc finger protein 574
RecName: Full=Zinc finger protein 574gi|125991263|sp|Q6ZN55.2|ZN574_HUMAProtein
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Last Updated: Aug 4, 2024