Annotation Detail
Information
- Associated Genes
- FBN1
- Associated Variants
-
FBN1 p.Asp1238Asn (p.D1238N)
(
ENST00000316623.10 )
FBN1 p.Asp1238Asn (p.D1238N) ( ENST00000316623.10 ) - Associated Disease
- acromicric dysplasia stiff skin syndrome MASS syndrome Weill-Marchesani syndrome 2, dominant Progeroid and marfanoid aspect-lipodystrophy syndrome Marfan syndrome Ectopia lentis 1, isolated, autosomal dominant geleophysic dysplasia 2
- Source Database
- ClinVar
- Description
- NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) AND multiple conditions
- ClinVar Allele ID
- 197723
- ClinVar RefSeq Alternation Syntax
- NM_000138.5:c.3712G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763355
- ClinVar Disease
- MASS syndrome
- ClinVar Disease
- Weill-Marchesani syndrome 2, dominant
- ClinVar Disease
- Geleophysic dysplasia 2
- ClinVar Disease
- Ectopia lentis 1, isolated, autosomal dominant
- ClinVar Disease
- Acromicric dysplasia
- ClinVar Disease
- Progeroid and marfanoid aspect-lipodystrophy syndrome
- ClinVar Disease
- Marfan syndrome
- ClinVar Disease
- Stiff skin syndrome
- Observed Origin Sample
- unknown
Drugs