Annotation Detail
Information
- Associated Genes
- FBN1
- Associated Variants
-
FBN1 c.*1477C>A
(
ENST00000316623.10 )
FBN1 c.*1477C>A ( ENST00000316623.10 ) - Associated Disease
- Weill-Marchesani syndrome
- Source Database
- ClinVar
- Description
- NM_000138.5(FBN1):c.*1477C>A AND Weill-Marchesani syndrome
- ClinVar Allele ID
- 332259
- ClinVar RefSeq Alternation Syntax
- NM_000138.5:c.*1477C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000379898
- ClinVar Disease
- Weill-Marchesani syndrome
- Observed Origin Sample
- germline
Drugs