H29A (p.His29Ala) variant of GAA (Lysosomal alpha-glucosidase)
H29A (p.His29Ala) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
H29A (p.His29Ala) variant details
- p.His29Ala
- rs2510344492
- ClinGen CA2695200345
- ClinVar RCV003461621
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)