Annotation Detail
Information
- Associated Genes
- TGFBR2
- Associated Variants
-
TGFBR2 p.Asn414= (p.N414=)
(
ENST00000295754.10,
ENST00000359013.4,
ENST00000714389.1,
ENST00000714390.1,
ENST00000714391.1 )
TGFBR2 p.Asn414= (p.N414=) ( ENST00000295754.10, ENST00000359013.4, ENST00000714389.1, ENST00000714390.1, ENST00000714391.1 ) - Associated Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Source Database
- ClinVar
- Description
- NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) AND Familial thoracic aortic aneurysm and aortic dissection
- ClinVar Allele ID
- 53819
- ClinVar RefSeq Alternation Syntax
- NM_001407137.1:c.882C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407130.1:c.1167C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407128.1:c.1194C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407129.1:c.1170C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407126.1:c.1350C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407132.1:c.1062C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407138.1:c.807C>T
- ClinVar RefSeq Alternation Syntax
- NM_001024847.3:c.1242C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407127.1:c.1275C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407133.1:c.1062C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407135.1:c.1062C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407134.1:c.1062C>T
- ClinVar RefSeq Alternation Syntax
- NM_003242.6:c.1167C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407139.1:c.530-16037C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407136.1:c.1062C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000249482
- ClinVar Disease
- Familial thoracic aortic aneurysm and aortic dissection
- Observed Origin Sample
- germline
Drugs