Annotation Detail
Information
- Associated Genes
- FGG
- Associated Variants
-
FGG p.Leu92Phe (p.L92F)
(
ENST00000407946.5,
ENST00000405164.5,
ENST00000336098.8,
ENST00000404648.7 )
FGG p.Leu92Phe (p.L92F) ( ENST00000336098.8, ENST00000404648.7, ENST00000405164.5, ENST00000407946.5 ) - Associated Disease
- congenital afibrinogenemia
- Source Database
- ClinVar
- Description
- NM_021870.3(FGG):c.274C>T (p.Leu92Phe) AND Congenital afibrinogenemia
- ClinVar Allele ID
- 297375
- ClinVar RefSeq Alternation Syntax
- NM_000509.6:c.274C>T
- ClinVar RefSeq Alternation Syntax
- NM_021870.3:c.274C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000289840
- ClinVar Disease
- Congenital afibrinogenemia
- Observed Origin Sample
- germline
Drugs