Annotation Detail
Information
- Associated Genes
- SMAD3
- Associated Variants
-
SMAD3 c.533-478T>C
(
ENST00000714109.1,
ENST00000327367.9,
ENST00000714110.1,
ENST00000679624.1,
ENST00000681239.1,
ENST00000558894.6,
ENST00000537194.6,
ENST00000560424.2,
ENST00000714108.1,
ENST00000540846.6,
ENST00000439724.7 )
SMAD3 c.533-478T>C ( ENST00000327367.9, ENST00000439724.7, ENST00000537194.6, ENST00000540846.6, ENST00000558894.6, ENST00000560424.2, ENST00000679624.1, ENST00000681239.1, ENST00000714108.1, ENST00000714109.1, ENST00000714110.1 ) - Associated Disease
- Coronary artery disorder
- Source Database
- ClinVar
- Description
- NM_005902.4(SMAD3):c.533-478T>C AND Coronary artery disorder
- ClinVar Allele ID
- 1263075
- ClinVar RefSeq Alternation Syntax
- NM_001145103.2:c.401-478T>C
- ClinVar RefSeq Alternation Syntax
- NM_005902.4:c.533-478T>C
- ClinVar RefSeq Alternation Syntax
- NM_001145102.2:c.218-478T>C
- ClinVar RefSeq Alternation Syntax
- NM_001145104.2:c.-54+108T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-05-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243407
- ClinVar Disease
- Coronary artery disorder
- Observed Origin Sample
- germline
Drugs