Annotation Detail
Information
- Associated Genes
- FBLN2 LOC121009643
- Associated Variants
-
FBLN2 p.Ser537Thr (p.S537T)
(
ENST00000295760.11,
ENST00000404922.8,
ENST00000492059.5 )
FBLN2 p.Ser537Thr (p.S537T) ( ENST00000295760.11, ENST00000404922.8, ENST00000492059.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001004019.2(FBLN2):c.1609T>A (p.Ser537Thr) AND not specified
- ClinVar Allele ID
- 2271286
- ClinVar RefSeq Alternation Syntax
- NM_001004019.2:c.1609T>A
- ClinVar RefSeq Alternation Syntax
- NM_001165035.2:c.1609T>A
- ClinVar RefSeq Alternation Syntax
- NM_001998.3:c.1609T>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004136411
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs