NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) AND Andersen Tawil syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2002
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009480.3
Allele description [Variation Report for NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)]
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)
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
Assertion and evidence details
Last Updated: May 7, 2024