P35R (p.Pro35Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
P35R (p.Pro35Arg) 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.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- rs2538129384
- ClinGen CA372693428
- ClinVar RCV003881991
- 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)