N94D (p.Asn94Asp) variant of FLNA (Filamin-A)
N94D (p.Asn94Asp) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl. The record also includes published literature and structural context.
N94D (p.Asn94Asp) variant details
- p.Asn94Asp
- rs2522771411
- ClinGen CA415254593
- ClinVar RCV003040916
- Likely pathogenic
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- ClinVar: Likely pathogenic (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)