NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) AND Long QT syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001258196.2
Allele description [Variation Report for NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)]
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)
Condition(s)
-
C4012727[trait identifier] AND "Equipe Genetique des Anomalies du... (2)
C4012727[trait identifier] AND "Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne"[submitter]SearchClinVar
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See more...Assertion and evidence details
Last Updated: May 1, 2024