NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) AND Arrhythmogenic right ventricular dysplasia 10
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001297928.3
Allele description [Variation Report for NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)]
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
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
-
Enterobacter ludwigii strain:JP6
Enterobacter ludwigii strain:JP6Enterobacter ludwigii strain:JP6 Genome sequencing and assemblyBioProject
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BioProject Links for Protein (Select 1654296555) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: May 7, 2024