Annotation Detail

Information
Associated Genes
TCF7L2
Associated Variants
TCF7L2 c.552+9017G>T ( ENST00000538897.5, ENST00000352065.10, ENST00000369397.8, ENST00000355995.9, ENST00000534894.5, ENST00000369395.6, ENST00000277945.12, ENST00000355717.9, ENST00000545257.6, ENST00000629706.2, ENST00000627217.3, ENST00000704414.1 )
TCF7L2 c.552+9017G>T ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
Associated Disease
Diabetes mellitus type 2, susceptibility to
Source Database
ClinVar
Description
NM_001367943.1(TCF7L2):c.552+9017G>T AND Diabetes mellitus type 2, susceptibility to
ClinVar Allele ID
22453
ClinVar RefSeq Alternation Syntax
NM_001146285.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198527.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001146284.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001146274.2:c.552+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001363501.2:c.552+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001146286.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198526.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198529.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198530.2:c.382-92041G>T
ClinVar RefSeq Alternation Syntax
NM_001198531.2:c.552+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001146283.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198525.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001198528.2:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_030756.5:c.483+9017G>T
ClinVar RefSeq Alternation Syntax
NM_001367943.1:c.552+9017G>T
Clinical Significance Description
risk factor
Clinical Significance Last Update
2008-01-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000007839
ClinVar Disease
Diabetes mellitus type 2, susceptibility to
Observed Origin Sample
germline
Pubmed
16415884
Pubmed
17470138
Pubmed
17245407
Pubmed
18097733
Drugs