NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000473244.9
Allele description [Variation Report for NM_000238.4(KCNH2):c.491G>A (p.Arg164His)]
NM_000238.4(KCNH2):c.491G>A (p.Arg164His)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
Assertion and evidence details
Last Updated: Sep 29, 2024