Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 c.307+2T>A
(
ENST00000262186.10,
ENST00000713710.1 )
KCNH2 c.307+2T>A ( ENST00000262186.10, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.307+2T>A AND Long QT syndrome
- ClinVar Allele ID
- 204116
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.307+2T>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.130+2T>A
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.307+2T>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000190216
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs