NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) AND multiple conditions
- Germline classification:
- Uncertain significance (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:
- RCV002483302.1
Allele description [Variation Report for NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)]
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
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
-
Similar Compounds for PubChem Compound (Select 168310631) (3)
PubChem Compound
-
Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 20...
Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 20, mRNAgi|1675050811|ref|NM_001326308.2|Nucleotide
-
LBX1-AS1 LBX1 antisense RNA 1 [Homo sapiens]
LBX1-AS1 LBX1 antisense RNA 1 [Homo sapiens]Gene ID:399806Gene
-
Gene Links for GEO Profiles (Select 27134240) (1)
Gene
-
Mus musculus
Mus musculusTranscriptional and epigenetic profiling of aged mouse SVZ-derived neural stem / progenitor cellsBioProject
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Last Updated: May 1, 2024