W41* (p.Trp41Ter) variant of FLNA (Filamin-A)
W41* (p.Trp41Ter) in FLNA (Filamin-A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W41* (p.Trp41Ter) variant details
- p.Trp41Ter
- rs2522771786
- ClinGen CA415255471
- ClinVar RCV003639372
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)