Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Arg136Cys (p.R136C)
(
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1,
ENST00000528731.1 )
KCNJ11 p.Arg136Cys (p.R136C) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) AND not provided
- ClinVar Allele ID
- 429189
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.406C>T
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.145C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002524208
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs