Q10* (p.Gln10Ter) variant of GALT (P07902)
Q10* (p.Gln10Ter) in GALT (P07902) 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.
Q10* (p.Gln10Ter) variant details
- p.Gln10Ter
- rs2492858066
- ClinVar RCV004576654
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)