Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
ENSG00000267699 c.*447+1G>A, SMAD4 c.424+1G>A
(
ENST00000342988.8,
ENST00000398417.6,
ENST00000588745.5,
ENST00000588860.6,
ENST00000589076.6,
ENST00000589941.2,
ENST00000590061.2,
ENST00000593223.2,
ENST00000714261.1,
ENST00000714264.1,
ENST00000714266.1,
ENST00000714268.1,
ENST00000714269.1,
ENST00000714270.1,
ENST00000714272.1 )
ENSG00000267699 c.*447+1G>A, SMAD4 c.424+1G>A ( ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1, ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2 ) - Associated Disease
- Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_005359.6(SMAD4):c.424+1G>A AND multiple conditions
- ClinVar Allele ID
- 47343
- ClinVar RefSeq Alternation Syntax
- NM_001407042.1:c.424+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407041.1:c.424+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_005359.6:c.424+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407043.1:c.424+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-11-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002328206
- ClinVar Disease
- Familial thoracic aortic aneurysm and aortic dissection
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs