Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Ala913Val (p.A913V)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Ala913Val (p.A913V) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome 2
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) AND Long QT syndrome 2
- ClinVar Allele ID
- 29482
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1718C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2738C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.2450C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-05-02
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015526
- ClinVar Disease
- Long QT syndrome 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 15840476
- Pubmed
- 17060380
Drugs