Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg752Gln (p.R752Q)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg752Gln (p.R752Q) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) AND Long QT syndrome 2
- ClinVar Allele ID
- 29474
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2255G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1967G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1955G>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.2255G>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1967G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.2078G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-08-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015516
- ClinVar Disease
- Long QT syndrome 2
- Observed Origin Sample
- germline
- Pubmed
- 9600240
- Pubmed
- 12621127
Drugs