Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg164His (p.R164H)
(
ENST00000262186.10,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg164His (p.R164H) ( ENST00000262186.10, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Short QT syndrome type 1 long QT syndrome 2
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.491G>A (p.Arg164His) AND multiple conditions
- ClinVar Allele ID
- 78404
- ClinVar RefSeq Alternation Syntax
- NM_172056.3:c.491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406756.1:c.203G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406757.1:c.191G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406755.1:c.314G>A
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.491G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.203G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-10-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002498337
- ClinVar Disease
- Long QT syndrome 2
- ClinVar Disease
- Short QT syndrome type 1
- Observed Origin Sample
- unknown
Drugs