NM_001943.5(DSG2):c.882dup (p.Val295fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002501181.8
Allele description [Variation Report for NM_001943.5(DSG2):c.882dup (p.Val295fs)]
NM_001943.5(DSG2):c.882dup (p.Val295fs)
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
-
Gys2 glycogen synthase 2 [Mus musculus]
Gys2 glycogen synthase 2 [Mus musculus]Gene ID:232493Gene
-
Gene Links for GEO Profiles (Select 46924632) (1)
Gene
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Last Updated: Jun 2, 2024