L104V (p.Leu104Val) variant of FLNA (Filamin-A)
L104V (p.Leu104Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked FLNA-related disorders; Melnick-Needles syndrome. The record also includes published literature and structural context.
L104V (p.Leu104Val) variant details
- p.Leu104Val
- rs2522771333
- ClinGen CA415254436
- ClinVar RCV002994966
- ClinVar RCV003146721
- Conflicting interpretations
- not provided; X-linked FLNA-related disorders; Melnick-Needles syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked FLNA-related disorders; Melnick-Needles s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)