Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Gly584Ser (p.G584S)
(
ENST00000330883.9,
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Gly584Ser (p.G584S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2 Short QT syndrome type 1
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) AND multiple conditions
- ClinVar Allele ID
- 78157
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1750G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1462G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1462G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1450G>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.730G>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1750G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.730G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1573G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-02-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000477917
- ClinVar Disease
- Long QT syndrome 2
- ClinVar Disease
- Short QT syndrome type 1
- Observed Origin Sample
- maternal
Drugs