NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) AND Arrhythmogenic right ventricular dysplasia 8
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001258161.1
Allele description [Variation Report for NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)]
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
- Identifiers:
- MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450
-
Barbula trifaria var. desertorum isolate JA441 ATP synthase beta (atpB) gene, pa...
Barbula trifaria var. desertorum isolate JA441 ATP synthase beta (atpB) gene, partial cds; atpB-rbcL intergenic spacer, complete sequence; and ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplastgi|2188608002|gb|OK625760.1|Nucleotide
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Last Updated: Sep 29, 2024