Annotation Detail
Information
- Associated Genes
- ATG16L1
- Associated Variants
-
ATG16L1 p.Thr317Ala (p.T317A)
(
ENST00000347464.9,
ENST00000373525.9,
ENST00000392017.9,
ENST00000392018.1,
ENST00000392020.8 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 ) - Associated Disease
- Inflammatory bowel disease 10, susceptibility to
- Source Database
- ClinVar
- Description
- NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) AND Inflammatory bowel disease 10, susceptibility to
- Pubmed
- 18438405
- ClinVar Allele ID
- 16169
- ClinVar RefSeq Alternation Syntax
- NM_001190266.2:c.646A>G
- ClinVar RefSeq Alternation Syntax
- NM_017974.4:c.841A>G
- ClinVar RefSeq Alternation Syntax
- NM_001190267.2:c.550A>G
- ClinVar RefSeq Alternation Syntax
- NM_030803.7:c.898A>G
- ClinVar RefSeq Alternation Syntax
- NM_198890.3:c.409A>G
- ClinVar RefSeq Alternation Syntax
- NM_001363742.2:c.949A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2014-02-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000001189
- ClinVar Disease
- Inflammatory bowel disease 10, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 17200669
- Pubmed
- 18852889
- Pubmed
- 19337756
- Pubmed
- 27273576
- Pubmed
- 17435756
- Pubmed
- 24553140
Drugs