Annotation Detail
Information
- Associated Genes
- ANKK1
- Associated Variants
-
ANKK1 p.Glu713Lys (p.E713K)
(
ENST00000303941.4 )
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 ) - Associated Disease
- Taq1A POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND Taq1A POLYMORPHISM
- ClinVar Allele ID
- 17144
- ClinVar RefSeq Alternation Syntax
- NM_178510.2:c.2137G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2008-10-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002186
- ClinVar Disease
- Taq1A POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 15146457
- Pubmed
- 15370155
- Pubmed
- 18063800
- Pubmed
- 10395223
- Pubmed
- 18621654
- Pubmed
- 11105655
- Pubmed
- 9650634
- Pubmed
- 15479180
- Pubmed
- 9429233
- Pubmed
- 18927395
Drugs