NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626865.2
Allele description [Variation Report for NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)]
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)
Condition(s)
- Name:
- Ventricular arrhythmia
- Identifiers:
- MedGen: C0085612; Human Phenotype Ontology: HP:0004308
- Name:
- Right ventricular cardiomyopathy
- Identifiers:
- MedGen: C2063326; Human Phenotype Ontology: HP:0011663
-
Schizophrenia 12
Schizophrenia 12MedGen
-
C1837893[conceptid] (1)
MedGen
-
Profile neighbors for GEO Profiles (Select 85247004) (200)
GEO Profiles
-
SCN9A sodium voltage-gated channel alpha subunit 9 [Homo sapiens]
SCN9A sodium voltage-gated channel alpha subunit 9 [Homo sapiens]Gene ID:6335Gene
-
Gene Links for GEO Profiles (Select 85231097) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024