NM_000891.3(KCNJ2):c.*1794C>A AND Andersen Tawil syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000300416.5
Allele description [Variation Report for NM_000891.3(KCNJ2):c.*1794C>A]
NM_000891.3(KCNJ2):c.*1794C>A
Condition(s)
- Name:
- Andersen Tawil syndrome (LQT7)
- Synonyms:
- Andersen Syndrome; Andersen cardiodysrhythmic periodic paralysis; Long QT syndrome 7; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008222; MedGen: C1563715; Orphanet: 37553; OMIM: 170390
-
glycosyltransferase [Mycobacterium phage Zakhe101]
glycosyltransferase [Mycobacterium phage Zakhe101]gi|921959476|gb|ALA48879.1|Protein
-
hypothetical protein LP9609_53 [Lactococcus phage LP9609]
hypothetical protein LP9609_53 [Lactococcus phage LP9609]gi|1246486284|gb|ATE83426.1|Protein
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Last Updated: Dec 24, 2023