Annotation Detail
Information
- Associated Genes
- KCNJ11 ABCC8
- Associated Variants
-
KCNJ11 p.Lys23Glu (p.K23E)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682350.1,
ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 23717
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-179A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-24A>G
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.67A>G
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-179A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000385348
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- germline
Drugs