NM_000238.4(KCNH2):c.729C>G (p.Ser243Arg) AND Long QT syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000803129.8
Allele description [Variation Report for NM_000238.4(KCNH2):c.729C>G (p.Ser243Arg)]
NM_000238.4(KCNH2):c.729C>G (p.Ser243Arg)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
RecName: Full=14-3-3 protein sigma; AltName: Full=Epithelial cell marker protein...
RecName: Full=14-3-3 protein sigma; AltName: Full=Epithelial cell marker protein 1; AltName: Full=Stratifingi|398953|sp|P31947.1|1433S_HUMANProtein
-
CD8B [Bos taurus]
CD8B [Bos taurus]Gene ID:508633Gene
-
508633[uid] AND (alive[prop]) (1)
Gene
-
thioesterase family protein [Virgibacillus natechei]
thioesterase family protein [Virgibacillus natechei]gi|2325749713|gnl|PRJNA894318|OLD84 5|gb|UZD13461.1|Protein
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Last Updated: Sep 29, 2024