S26* (p.Ser26Ter) variant of ATRX (Chromatin remodeler ATRX)
S26* (p.Ser26Ter) in ATRX (Chromatin remodeler ATRX) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
S26* (p.Ser26Ter) variant details
- p.Ser26Ter
- rs2073481839
- ClinGen CA413724652
- ClinVar RCV001255468
- Ensembl rs2073481839
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)