Annotation Detail
Information
- Associated Genes
- FBN1
- Associated Variants
-
FBN1 p.Asp1238Asn (p.D1238N)
(
ENST00000316623.10 )
FBN1 p.Asp1238Asn (p.D1238N) ( ENST00000316623.10 ) - Associated Disease
- Marfan syndrome
- Source Database
- ClinVar
- Description
- NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND Marfan syndrome
- ClinVar Allele ID
- 197723
- ClinVar RefSeq Alternation Syntax
- NM_000138.5:c.3712G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2018-11-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000659532
- ClinVar Disease
- Marfan syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs