Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg176Trp (p.R176W)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg176Trp (p.R176W) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) AND Long QT syndrome
- ClinVar Allele ID
- 78405
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.238C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.238C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.226C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.349C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000199086
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs