Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Tyr330Cys (p.Y330C)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1 )
KCNJ11 p.Tyr330Cys (p.Y330C) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) AND Neonatal insulin-dependent diabetes mellitus
- ClinVar Allele ID
- 34056
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.728A>G
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.989A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.728A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.728A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-02-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000146124
- Observed Origin Sample
- germline
Drugs