Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Asp219Val (p.D219V)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Asp219Val (p.D219V) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) AND Long QT syndrome 2
- ClinVar Allele ID
- 167508
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.368A>T
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.656A>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.656A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.368A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.479A>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.356A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144957
- ClinVar Disease
- Long QT syndrome 2
- Observed Origin Sample
- unknown
Drugs