NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004005532.2
Allele description [Variation Report for NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)]
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MedGen: C0349788
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BIO4 [Saccharomyces cerevisiae S288C]
BIO4 [Saccharomyces cerevisiae S288C]Gene ID:855794Gene
-
Gene Links for GEO Profiles (Select 129600) (1)
Gene
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Last Updated: May 7, 2024