NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) AND Arrhythmogenic right ventricular dysplasia 9
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001453377.13
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:
- Arrhythmogenic right ventricular dysplasia 9 (ARVD9)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic right ventricular cardiomyopathy, type 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
- Identifiers:
- MONDO: MONDO:0012180; MedGen: C1836906; OMIM: 609040
-
Coronanthera sp. MLS-2017 voucher M. Callmander 830 (G) 18S ribosomal RNA gene, ...
Coronanthera sp. MLS-2017 voucher M. Callmander 830 (G) 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|1189489236|gb|KY858315.1|Nucleotide
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PREDICTED: Homo sapiens monocyte to macrophage differentiation associated (MMD),...
PREDICTED: Homo sapiens monocyte to macrophage differentiation associated (MMD), transcript variant X1, mRNAgi|2462554266|ref|XM_054315630.1|Nucleotide
-
monocyte to macrophage differentiation factor isoform X1 [Homo sapiens]
monocyte to macrophage differentiation factor isoform X1 [Homo sapiens]gi|2217310973|ref|XP_047291664.1|Protein
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utrophin isoform X6 [Rattus norvegicus]
utrophin isoform X6 [Rattus norvegicus]gi|1958642755|ref|XP_038957875.1|Protein
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UNVERIFIED: Coronanthera sp. Callmander 830 trnK and matK genes, partial sequenc...
UNVERIFIED: Coronanthera sp. Callmander 830 trnK and matK genes, partial sequence; chloroplastgi|426272483|gb|JX195982.1|Nucleotide
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Last Updated: Oct 8, 2024