R148* (p.Arg148Ter) variant of MED13L (Q71F56)

Name: MED13L R148* (p.Arg148Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

R148* (p.Arg148Ter) in MED13L (Q71F56) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

R148* (p.Arg148Ter) variant details

p.Arg148Ter
rs1872666696
ClinGen CA386926852
ClinVar RCV001257650
ClinVar RCV001732096
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: MED13L Syndrome. (PMID 40228085)
Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)