F151S (p.Phe151Ser) variant of AICDA (Q9GZX7)
F151S (p.Phe151Ser) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 2. The record also includes published literature and structural context.
F151S (p.Phe151Ser) variant details
- p.Phe151Ser
- rs104894327
- ClinGen CA117280
- ClinVar RCV000005435
- UniProt VAR 013778
- Pathogenic
- Hyper-IgM syndrome type 2
- Missense
- ClinVar: Pathogenic (Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Structural context available
- Cited in: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome… (PMID 11007475)
- Cited in: Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to… (PMID 14962793)