K1937R (p.Lys1937Arg) variant of FLNA (Filamin-A)
K1937R (p.Lys1937Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The record also includes published literature and structural context.
K1937R (p.Lys1937Arg) variant details
- p.Lys1937Arg
- rs2522724685
- ClinGen CA415199218
- ClinVar RCV003815636
- Pathogenic
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- ClinVar: Pathogenic (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)