W123* (p.Trp123Ter) variant of SATB2 (DNA-binding protein SATB2)

Name: SATB2 W123* (p.Trp123Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

W123* (p.Trp123Ter) in SATB2 (DNA-binding protein SATB2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

W123* (p.Trp123Ter) variant details

p.Trp123Ter
rs2468949035
ClinGen CA350389260
ClinVar RCV004545486
ClinVar RCV005003744
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)