NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr) AND Arrhythmogenic right ventricular dysplasia 10
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002050260.4
Allele description [Variation Report for NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr)]
NM_001943.5(DSG2):c.3357A>T (p.Ter1119Tyr)
Condition(s)
- Name:
- Arrhythmogenic right ventricular dysplasia 10
- Synonyms:
- ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193
-
guanine deaminase isoform b [Homo sapiens]
guanine deaminase isoform b [Homo sapiens]gi|4758426|ref|NP_004284.1|Protein
-
Assembly links for BioSample (Select 16066262) (1)
Assembly
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Last Updated: Sep 29, 2024