NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=) AND Long QT syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 11, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678813.3
Allele description [Variation Report for NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)]
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Apr 15, 2023