NM_001943.5(DSG2):c.2619A>G (p.Gln873=) AND Arrhythmogenic right ventricular dysplasia 10
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001244633.6
Allele description [Variation Report for NM_001943.5(DSG2):c.2619A>G (p.Gln873=)]
NM_001943.5(DSG2):c.2619A>G (p.Gln873=)
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
-
N-Acetylgalactosaminyltransferases
N-AcetylgalactosaminyltransferasesEnzymes that catalyze the transfer of N-acetylgalactosamine from a nucleoside diphosphate N-acetylgalactosamine to an acceptor molecule which is frequently another carbohydrat...<br/>Year introduced: 1993MeSH
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024