W41L (p.Trp41Leu) variant of FLNA (Filamin-A)
W41L (p.Trp41Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom. The record also includes published literature and structural context.
W41L (p.Trp41Leu) variant details
- p.Trp41Leu
- rs2522771792
- ClinGen CA415255473
- ClinVar RCV003887275
- ClinVar RCV005216141
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)