Annotation Detail
Information
- Associated Genes
- CDKAL1
- Associated Variants
-
CDKAL1 c.371+11426A>C
(
ENST00000274695.8,
ENST00000378610.1 )
CDKAL1 c.371+11426A>C ( ENST00000274695.8, ENST00000378610.1 ) - Associated Disease
- type 2 diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_017774.3(CDKAL1):c.371+11426A>C AND Type 2 diabetes mellitus
- ClinVar Allele ID
- 16025
- ClinVar RefSeq Alternation Syntax
- NM_017774.3:c.371+11426A>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001037
- ClinVar Disease
- Type 2 diabetes mellitus
- Observed Origin Sample
- germline
- Pubmed
- 17463249
- Pubmed
- 24760768
- Pubmed
- 17463246
- Pubmed
- 17463248
Drugs