C53* (p.Cys53Ter) variant of TGM1 (P22735)
C53* (p.Cys53Ter) in TGM1 (P22735) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in ARCI1. The record also includes published literature and structural context.
C53* (p.Cys53Ter) variant details
- p.Cys53Ter
- rs201432046
- ClinGen CA257902252
- ClinVar RCV000672592
- TOPMed rs201432046
- Likely pathogenic
- in ARCI1
- Stop Gained
- EBI: Likely pathogenic (in ARCI1)
- UniProt: Likely pathogenic (in ARCI1)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)