NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001535632.2
Allele description [Variation Report for NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)]
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
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
-
LOC4344380 [Oryza sativa Japonica Group]
LOC4344380 [Oryza sativa Japonica Group]Gene ID:4344380Gene
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Last Updated: Sep 29, 2024