E42G (p.Glu42Gly) variant of FANCD2 (Fanconi anemia group D2 protein)
E42G (p.Glu42Gly) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The record also includes published literature and structural context.
E42G (p.Glu42Gly) variant details
- p.Glu42Gly
- rs2470709095
- ClinGen CA351718273
- ClinVar RCV003086873
- Uncertain significance
- Fanconi anemia
- Missense
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)