NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002478605.1
Allele description [Variation Report for NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)]
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)
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
-
Gene Links for GEO Profiles (Select 109699529) (1)
Gene
-
NTF3 neurotrophin 3 [Homo sapiens]
NTF3 neurotrophin 3 [Homo sapiens]Gene ID:4908Gene
-
Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain...
Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6, mRNA (cDNA clone MGC:126353 IMAGE:40035012), complete cdsgi|74356424|gb|BC104751.1|Nucleotide
-
j, com (35)
BioProject
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Last Updated: May 7, 2024