Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Gly306Arg (p.G306R)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Gly306Arg (p.G306R) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) AND Long QT syndrome
- ClinVar Allele ID
- 78439
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.616G>C
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.916G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.739G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.628G>C
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.916G>C
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.628G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000198797
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs