Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly53Ser (p.G53S)
(
ENST00000528731.1,
ENST00000682350.1,
ENST00000682764.1,
ENST00000339994.5 )
KCNJ11 p.Gly53Ser (p.G53S) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- type 2 diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) AND Type 2 diabetes mellitus
- ClinVar Allele ID
- 23720
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-17+83G>A
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-89G>A
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.157G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-89G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002250455
- ClinVar Disease
- Type 2 diabetes mellitus
- Observed Origin Sample
- somatic
Drugs