Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg744Ter (p.R744*)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg744Ter (p.R744*) ( ENST00000713701.1, ENST00000713710.1, ENST00000262186.10, ENST00000330883.9 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) AND Congenital long QT syndrome
- ClinVar Allele ID
- 178574
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1942C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.2053C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1942C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2230C>T
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1210C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1930C>T
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.2230C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.1210C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-07-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004017439
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs