E2Q (p.Glu2Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E2Q (p.Glu2Gln) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Baller-Gerold syndrome. The record also includes published literature and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs2538135445
- ClinGen CA372694036
- ClinVar RCV003849224
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)