G35D (p.Gly35Asp) variant of PIK3R1 (P27986)
G35D (p.Gly35Asp) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w. The record also includes published literature and structural context.
G35D (p.Gly35Asp) variant details
- p.Gly35Asp
- rs2530796781
- ClinGen CA2580073384
- ClinVar RCV003041503
- Uncertain significance
- SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w
- Missense
- ClinVar: Uncertain significance (SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)