Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 p.Thr17Ala (p.T17A)
(
ENST00000295854.10,
ENST00000487393.1,
ENST00000648405.2,
ENST00000696049.1,
ENST00000696479.1 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 ) - Associated Disease
- Celiac disease, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND Celiac disease, susceptibility to, 3
- ClinVar Allele ID
- 31960
- ClinVar RefSeq Alternation Syntax
- NM_001037631.3:c.49A>G
- ClinVar RefSeq Alternation Syntax
- NM_005214.5:c.49A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2005-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018427
- ClinVar Disease
- Celiac disease, susceptibility to, 3
- Observed Origin Sample
- germline
- Pubmed
- 8817351
- Pubmed
- 10189842
- Pubmed
- 11158025
- Pubmed
- 9398726
- Pubmed
- 15301861
- Pubmed
- 15688186
- Pubmed
- 10475192
- Pubmed
- 9259273
- Pubmed
- 11098935
- Pubmed
- 15138458
Drugs