Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg885Ser (p.R885S)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg885Ser (p.R885S) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser) AND Long QT syndrome
- ClinVar Allele ID
- 1323095
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.2653C>A
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.1633C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-07-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001869541
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs