NM_000238.4(KCNH2):c.2684del (p.Thr895fs) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001946622.3
Allele description [Variation Report for NM_000238.4(KCNH2):c.2684del (p.Thr895fs)]
NM_000238.4(KCNH2):c.2684del (p.Thr895fs)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Mus musculus polybromo 1 (Pbrm1), transcript variant 6, mRNA
Mus musculus polybromo 1 (Pbrm1), transcript variant 6, mRNAgi|1331037366|ref|NM_001359858.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024