NM_004415.4(DSP):c.793_794del (p.Arg265fs) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002260474.1
Allele description [Variation Report for NM_004415.4(DSP):c.793_794del (p.Arg265fs)]
NM_004415.4(DSP):c.793_794del (p.Arg265fs)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788
-
ST8SIA3 [Vulpes lagopus]
ST8SIA3 [Vulpes lagopus]Gene ID:121482141Gene
-
LOC109774234 [Aegilops tauschii]
LOC109774234 [Aegilops tauschii]Gene ID:109774234Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024