Annotation Detail
Information
- Associated Genes
- KCNT1
- Associated Variants
-
KCNT1 p.Arg961His (p.R961H)
(
ENST00000263604.5,
ENST00000371757.7,
ENST00000486577.6,
ENST00000487664.5,
ENST00000488444.6,
ENST00000490355.6,
ENST00000491806.6,
ENST00000628528.2,
ENST00000630792.2,
ENST00000631073.2,
ENST00000674572.1 )
KCNT1 p.Arg961His (p.R961H) ( ENST00000263604.5, ENST00000371757.7, ENST00000486577.6, ENST00000487664.5, ENST00000488444.6, ENST00000490355.6, ENST00000491806.6, ENST00000628528.2, ENST00000630792.2, ENST00000631073.2, ENST00000674572.1 ) - Associated Disease
- autosomal dominant nocturnal frontal lobe epilepsy 5 Developmental and epileptic encephalopathy, 14
- Source Database
- ClinVar
- Description
- NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND multiple conditions
- ClinVar Allele ID
- 134806
- ClinVar RefSeq Alternation Syntax
- NM_001272003.2:c.2747G>A
- ClinVar RefSeq Alternation Syntax
- NM_020822.3:c.2882G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001061890
- ClinVar Disease
- Autosomal dominant nocturnal frontal lobe epilepsy 5
- ClinVar Disease
- Developmental and epileptic encephalopathy, 14
- Observed Origin Sample
- germline
Drugs