Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Arg201His (p.R201H)
(
ENST00000682764.1,
ENST00000682350.1,
ENST00000339994.5,
ENST00000528731.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND not provided
- ClinVar Allele ID
- 23705
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.602G>A
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.341G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.341G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000712160
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs