NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002523429.3
Allele description [Variation Report for NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr)]
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
RecName: Full=Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=...
RecName: Full=Short-chain specific acyl-CoA dehydrogenase, mitochondrial; Short=SCAD; AltName: Full=Butyryl-CoA dehydrogenase; Flags: Precursorgi|341940171|sp|Q07417.2|ACADS_MOUSProtein
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Last Updated: Oct 13, 2024