NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter) AND Long QT syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 4, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000457192.8
Allele description
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter)
Condition(s)
- Name:
- Long QT syndrome (LQTS)
- Identifiers:
- MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976
-
Uperoleia NADH dehydroxinase subunit 2 (ND2) gene, partial cds; mitochondrial.
Uperoleia NADH dehydroxinase subunit 2 (ND2) gene, partial cds; mitochondrial.PopSet: 2161398266PopSet
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024