Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Thr65Pro (p.T65P)
(
ENST00000262186.10,
ENST00000713710.1 )
KCNH2 p.Thr65Pro (p.T65P) ( ENST00000262186.10, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) AND Long QT syndrome 2
- ClinVar Allele ID
- 29473
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.193A>C
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.16A>C
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.193A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2002-12-13
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015515
- ClinVar Disease
- Long QT syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 12354768
Drugs