E27D (p.Glu27Asp) variant of FLNA (Filamin-A)
E27D (p.Glu27Asp) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The record also includes published literature and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs2522771889
- ClinGen CA415255652
- ClinVar RCV003810605
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- 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)