Annotation Detail
Information
- Associated Genes
- TCF7L2
- Associated Variants
-
TCF7L2 p.Ala560= (p.A560=)
(
ENST00000627217.3,
ENST00000629706.2,
ENST00000355717.9,
ENST00000545257.6,
ENST00000277945.12,
ENST00000534894.5,
ENST00000355995.9,
ENST00000369397.8,
ENST00000538897.5 )
TCF7L2 p.Ala560= (p.A560=) ( ENST00000277945.12, ENST00000355717.9, ENST00000355995.9, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2 ) - Associated Disease
- TCF7L2-related disorder
- Source Database
- ClinVar
- Description
- NM_001367943.1(TCF7L2):c.1680C>T (p.Ala560=) AND TCF7L2-related disorder
- ClinVar Allele ID
- 3217468
- ClinVar RefSeq Alternation Syntax
- NM_001198529.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001367943.1:c.1680C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198525.2:c.*268C>T
- ClinVar RefSeq Alternation Syntax
- NM_001363501.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001146274.2:c.1629C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198530.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198531.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198528.2:c.*256C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349870.2:c.*256C>T
- ClinVar RefSeq Alternation Syntax
- NM_030756.5:c.1611C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349871.1:c.*256C>T
- ClinVar RefSeq Alternation Syntax
- NM_001146285.2:c.1560C>T
- ClinVar RefSeq Alternation Syntax
- NM_001146286.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001146283.2:c.*158C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198527.2:c.*256C>T
- ClinVar RefSeq Alternation Syntax
- NM_001198526.2:c.1560C>T
- ClinVar RefSeq Alternation Syntax
- NM_001146284.2:c.*158C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-02-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003964745
- ClinVar Disease
- TCF7L2-related disorder
- Observed Origin Sample
- germline
Drugs