GLA c.491T>G ;(p.V164G)

Variant ID: X-100656676-A-C

NM_000169.2(GLA):c.491T>G;(p.V164G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 491T>G; V164G
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: V164G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases
Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E
Publication Date: 2016-05-04

Variant appearance in text: GLA: V164G
PubMed Link: 27142856
Variant Present in the following documents:
View BVdb publication page