L48S (p.Leu48Ser) variant of NBN (Nibrin)
L48S (p.Leu48Ser) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The record also includes published literature and structural context.
L48S (p.Leu48Ser) variant details
- p.Leu48Ser
- rs2129924518
- ClinGen CA371662996
- ClinVar RCV003618142
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)