NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001924072.4
Allele description [Variation Report for NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)]
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Aug 11, 2024