Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 p.Lys173Gln (p.K173Q)
(
ENST00000647893.1 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 ) - Associated Disease
- Diabetes mellitus type 2, susceptibility to
- Source Database
- ClinVar
- Description
- NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Diabetes mellitus type 2, susceptibility to
- ClinVar Allele ID
- 28628
- ClinVar RefSeq Alternation Syntax
- NM_006208.3:c.517A>C
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2006-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001255136
- ClinVar Disease
- Diabetes mellitus type 2, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 16968801
- Pubmed
- 11739459
- Pubmed
- 10480624
- Pubmed
- 15126519
- Pubmed
- 16025115
- Pubmed
- 16607460
- Pubmed
- 14671192
- Pubmed
- 14988267
- Pubmed
- 15001634
Drugs