T38P (p.Thr38Pro) variant of RECQL4 (ATP-dependent DNA helicase Q4)
T38P (p.Thr38Pro) 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 Inborn genetic diseases; Baller-Gerold syndrome. The record also includes published literature and structural context.
T38P (p.Thr38Pro) variant details
- p.Thr38Pro
- rs2538129116
- ClinGen CA372693379
- ClinVar RCV002962527
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)