Annotation Detail
Information
- Associated Genes
- TGFBR1
- Associated Variants
-
TGFBR1 c.*884A>G
(
ENST00000374990.6,
ENST00000374994.9,
ENST00000552516.5,
ENST00000698941.1,
ENST00000714345.1,
ENST00000714348.1 )
TGFBR1 c.*884A>G ( ENST00000374990.6, ENST00000374994.9, ENST00000552516.5, ENST00000698941.1, ENST00000714345.1, ENST00000714348.1 ) - Associated Disease
- Loeys-Dietz syndrome
- Source Database
- ClinVar
- Description
- NM_004612.4(TGFBR1):c.*884A>G AND Loeys-Dietz syndrome
- ClinVar Allele ID
- 313819
- ClinVar RefSeq Alternation Syntax
- NM_001130916.3:c.*884A>G
- ClinVar RefSeq Alternation Syntax
- NM_001306210.2:c.*884A>G
- ClinVar RefSeq Alternation Syntax
- NM_004612.4:c.*884A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000267995
- ClinVar Disease
- Loeys-Dietz syndrome
- Observed Origin Sample
- germline
Drugs