NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003072639.2
Allele description [Variation Report for NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)]
NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Feb 20, 2024