Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Cys42Arg (p.C42R)
(
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1,
ENST00000528731.1 )
KCNJ11 p.Cys42Arg (p.C42R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- permanent neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 23715
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-17+50T>C
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-122T>C
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.124T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-122T>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020347
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- unknown
Drugs