E139D (p.Glu139Asp) variant of PHF6 (PHD finger protein 6)
E139D (p.Glu139Asp) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Borjeson-Forssman-Lehmann syndrome. The record also includes structural context.
E139D (p.Glu139Asp) variant details
- p.Glu139Asp
- rs2520543764
- ClinVar RCV004578013
- ClinVar RCV005939492
- Pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- ClinVar: Pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available