R142Q (p.Arg142Gln) variant of TGM1 (P22735)
R142Q (p.Arg142Gln) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The record also includes published literature and structural context.
R142Q (p.Arg142Gln) variant details
- p.Arg142Gln
- rs2502507973
- ClinGen CA2695199811
- ClinVar RCV003474088
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic (in ARCI1)
- UniProt: Likely pathogenic (in ARCI1)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)