Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg791Trp (p.R791W)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg791Trp (p.R791W) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Brugada syndrome 1
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) AND Brugada syndrome 1
- ClinVar Allele ID
- 78287
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.2194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.2071C>T
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.2371C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2371C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.2083C>T
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1351C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.1351C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.2083C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001778698
- ClinVar Disease
- Brugada syndrome 1
- Observed Origin Sample
- germline
Drugs