E7N (p.Glu7Asn) variant of GLA (Alpha-galactosidase A)
E7N (p.Glu7Asn) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E7N (p.Glu7Asn) variant details
- p.Glu7Asn
- rs2147487830
- ClinGen CA2573159129
- ClinVar RCV001943235
- ClinVar RCV003303377
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)