Q20* (p.Gln20Ter) variant of G6PC1 (P35575)
Q20* (p.Gln20Ter) in G6PC1 (P35575) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in GSD1A. The record also includes structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53833
- Variant assessed as somatic; high impact.
- in GSD1A
- Stop Gained
- UniProt: Variant assessed as somatic; high impact. (in GSD1A)
- Structural context available