NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) AND Andersen Tawil syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001199329.2
Allele description [Variation Report for NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)]
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)
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
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Fungal sp. NLEndoHerit_022_2008N2-33-3G internal transcribed spacer 1, partial s...
Fungal sp. NLEndoHerit_022_2008N2-33-3G internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|441494163|gb|JX978251.1|Nucleotide
-
LOC106616751 [Bactrocera oleae]
LOC106616751 [Bactrocera oleae]Gene ID:106616751Gene
-
socs1.S suppressor of cytokine signaling 1 S homeolog [Xenopus laevis]
socs1.S suppressor of cytokine signaling 1 S homeolog [Xenopus laevis]Gene ID:443921Gene
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Last Updated: Jun 3, 2023