Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gly53Asp (p.G53D)
(
ENST00000528731.1,
ENST00000682764.1,
ENST00000682350.1,
ENST00000339994.5 )
KCNJ11 p.Gly53Asp (p.G53D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Diabetes mellitus, permanent neonatal 2
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) AND Diabetes mellitus, permanent neonatal 2
- ClinVar Allele ID
- 23724
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-17+84G>A
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.158G>A
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-88G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-88G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009222
- ClinVar Disease
- Diabetes mellitus, permanent neonatal 2
- Observed Origin Sample
- germline
- Pubmed
- 18073297
- Pubmed
- 16609879
Drugs