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: TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO
Source Database: ClinVar
Description: NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) AND TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO
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/RCV001255201
ClinVar Disease: TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO
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