GLA c.881T>A ;(p.L294*)

Variant ID: X-100653476-A-T

NM_000169.2(GLA):c.881T>A;(p.L294*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.

Esc Heart Failure
Zemánek, David D; Januška, Jaroslav J; Honěk, Tomáš T; Čurila, Karol K; Kubánek, Miloš M; Šindelářová, Štěpánka Š; Zahálková, Lucie L; Klofáč, Petr P; Laštůvková, Eliška E; Lichnerová, Eva E; Aiglová, Renata R; Lhotský, Jan J; Vondrák, Jiří J; Dostálová, Gabriela G; Táborský, Miloš M; Kasper, David D; Linhart, Aleš A
Publication Date: 2022-09-10

Variant appearance in text: GLA: L294*
PubMed Link: 36087038
Variant Present in the following documents:
  • Main text
  • EHF2-9-4160.pdf
View BVdb publication page



Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

Journal Of Inherited Metabolic Disease
Hůlková, Helena H; Elleder, Milan M
Publication Date: 2010-12

Variant appearance in text: GLA: Leu294Ter
PubMed Link: 20628902
Variant Present in the following documents:
  • Main text
  • 10545_2010_Article_9160.pdf
View BVdb publication page