NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 13, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631579.4
Allele description [Variation Report for NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)]
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
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Last Updated: Sep 29, 2024