NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) AND Long QT syndrome 2/3, digenic
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2006
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000010005.10
Allele description [Variation Report for NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)]
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
Condition(s)
- Name:
- Long QT syndrome 2/3, digenic (LQT2/3, DIGENIC)
- Synonyms:
- Long QT syndrome 2/3
- Identifiers:
- MedGen: C3276240
Assertion and evidence details
Last Updated: Mar 23, 2024