Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ala614Val (p.A614V)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala614Val (p.A614V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND Long QT syndrome
- ClinVar Allele ID
- 38732
- ClinVar RefSeq Alternation Syntax
- NM_001204798.2:c.821C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.1664C>T
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.821C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.1541C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.1841C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.1553C>T
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.1841C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.1553C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000462085
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs