G524D (p.Gly524Asp) variant of TGM1 (P22735)
G524D (p.Gly524Asp) in TGM1 (P22735) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The record also includes structural context.
G524D (p.Gly524Asp) variant details
- p.Gly524Asp
- NCI-TCGA Cosmic COSV5286
- cosmic curated COSV52861
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- UniProt: Likely pathogenic
- Structural context available