NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000535797.8
Allele description
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
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
-
Conserved Domain Links for Protein (Select 1851775236) (1)
Conserved Domains
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Last Updated: May 7, 2024