NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002624537.2
Allele description [Variation Report for NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)]
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
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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Related BioAssays, by Target Similarity (List) for PubChem BioAss... (13)
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See more...Assertion and evidence details
Last Updated: May 7, 2024