Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Cys166Phe (p.C166F)
(
ENST00000682350.1,
ENST00000682764.1,
ENST00000339994.5,
ENST00000528731.1 )
KCNJ11 p.Cys166Phe (p.C166F) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Diabetes mellitus, permanent neonatal 2
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) AND Diabetes mellitus, permanent neonatal 2
- ClinVar Allele ID
- 23718
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.497G>T
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.236G>T
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.236G>T
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.236G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009216
- ClinVar Disease
- Diabetes mellitus, permanent neonatal 2
- Observed Origin Sample
- germline
- Pubmed
- 16670688
Drugs