Annotation Detail
Information
- Associated Genes
- FGB
- Associated Variants
-
FGB p.Arg478Lys (p.R478K)
(
ENST00000302068.9,
ENST00000509493.1 )
FGB p.Arg478Lys (p.R478K) ( ENST00000302068.9, ENST00000509493.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) AND not provided
- ClinVar Allele ID
- 31423
- ClinVar RefSeq Alternation Syntax
- NM_001382760.1:c.1245-10G>A
- ClinVar RefSeq Alternation Syntax
- NM_005141.5:c.1433G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382764.1:c.*207G>A
- ClinVar RefSeq Alternation Syntax
- NM_001184741.1:c.1256G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382761.1:c.*98G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382762.1:c.1133G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382763.1:c.1424G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382759.1:c.1301G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382765.1:c.1409G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723573
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs