NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001340194.4
Allele description [Variation Report for NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)]
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
RecName: Full=Inhibitor of Bruton tyrosine kinase; Short=IBtk
RecName: Full=Inhibitor of Bruton tyrosine kinase; Short=IBtkgi|134034141|sp|Q9P2D0.3|IBTK_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Jul 23, 2024