I129M (p.Ile129Met) variant of FLNA (Filamin-A)
I129M (p.Ile129Met) 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; Frontometaphyseal dysplasia; Melnick-Needl. The record also includes published literature and structural context.
I129M (p.Ile129Met) variant details
- p.Ile129Met
- rs376726361
- ClinGen CA415251096
- ClinVar RCV003050680
- Uncertain significance
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- 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)