NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro) AND Arrhythmogenic right ventricular cardiomyopathy
- Germline classification:
- Uncertain significance (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:
- RCV002260450.1
Allele description [Variation Report for NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)]
NM_004415.4(DSP):c.5291T>C (p.Leu1764Pro)
Condition(s)
- Name:
- Arrhythmogenic right ventricular cardiomyopathy (ARVD)
- Synonyms:
- Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
- Identifiers:
- MONDO: MONDO:0016587; MedGen: C0349788
-
Genome Links for Gene (Select 61221535) (1)
Genome
-
EPS8 EGFR pathway substrate 8, signaling adaptor [Homo sapiens]
EPS8 EGFR pathway substrate 8, signaling adaptor [Homo sapiens]Gene ID:2059Gene
-
Gene Links for Protein (Select 2327747137) (1)
Gene
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Last Updated: May 7, 2024