NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs) AND Long QT syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003318432.3
Allele description [Variation Report for NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)]
NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Feb 4, 2024