Annotation Detail
Information
- Associated Genes
- KCNH2
- Associated Variants
-
KCNH2 p.Pro1075Leu (p.P1075L)
(
ENST00000262186.10,
ENST00000330883.9,
ENST00000713701.1,
ENST00000713710.1 )
KCNH2 p.Pro1075Leu (p.P1075L) ( ENST00000262186.10, ENST00000330883.9, ENST00000713701.1, ENST00000713710.1 ) - Associated Disease
- Cardiac arrhythmia
- Source Database
- ClinVar
- Description
- NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) AND Cardiac arrhythmia
- ClinVar Allele ID
- 78377
- ClinVar RefSeq Alternation Syntax
- NM_172057.3:c.2204C>T
- ClinVar RefSeq Alternation Syntax
- NM_000238.4:c.3224C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003591663
- ClinVar Disease
- Cardiac arrhythmia
- Observed Origin Sample
- germline
Drugs