Annotation Detail
Information
- Associated Genes
- TCF7L2
- Associated Variants
-
TCF7L2 c.552+7162G>C
(
ENST00000355995.9,
ENST00000534894.5,
ENST00000352065.10,
ENST00000369397.8,
ENST00000538897.5,
ENST00000627217.3,
ENST00000704414.1,
ENST00000629706.2,
ENST00000277945.12,
ENST00000369395.6,
ENST00000355717.9,
ENST00000545257.6 )
TCF7L2 c.552+7162G>C ( 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+7162G>C AND Diabetes mellitus type 2, susceptibility to
- ClinVar Allele ID
- 22454
- ClinVar RefSeq Alternation Syntax
- NM_001198525.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198528.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001367943.1:c.552+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198529.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146274.2:c.552+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146286.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198526.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146283.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146284.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198530.2:c.382-93896G>C
- ClinVar RefSeq Alternation Syntax
- NM_001363501.2:c.552+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_030756.5:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198531.2:c.552+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001198527.2:c.483+7162G>C
- ClinVar RefSeq Alternation Syntax
- NM_001146285.2:c.483+7162G>C
- 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/RCV000007840
- ClinVar Disease
- Diabetes mellitus type 2, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 17340123
- Pubmed
- 17609304
- Pubmed
- 18097733
Drugs