Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Arg1047Cys (p.R1047C)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Arg1047Cys (p.R1047C) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Cardiac arrhythmia
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys) AND Cardiac arrhythmia
- ClinVar Allele ID
- 171106
- ClinVar RefSeq Alternation Syntax
- NR_176254.1:n.3360C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.3139C>T
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.2119C>T
- ClinVar RefSeq Alternation Syntax
- NR_176255.1:n.2233C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406753.1:c.2851C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-02-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003591689
- ClinVar Disease
- Cardiac arrhythmia
- Observed Origin Sample
- germline
Drugs