NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys) AND Cardiac conduction defect, nonspecific
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000058427.2
Allele description
NM_000335.4(SCN5A):c.1540G>T (p.Gly514Cys)
Condition(s)
- Name:
- Cardiac conduction defect, nonspecific
- Synonyms:
- Cardiac conduction disease
- Identifiers:
- EFO: EFO_0005137; MedGen: C2748542
Assertion and evidence details
Last Updated: Oct 3, 2016