GLA c.156C>A ;(p.C52*)

Variant ID: X-100662736-G-T

NM_000169.2(GLA):c.156C>A;(p.C52*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases
Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB
Publication Date: 2020-01-29

Variant appearance in text: GLA: 156C>A; C52*
PubMed Link: 31996269
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1274.pdf
View BVdb publication page



Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Rna Biology
Lombardi, Silvia S; Ferrarese, Mattia M; Marchi, Saverio S; Pinton, Paolo P; Pinotti, Mirko M; Bernardi, Francesco F; Branchini, Alessio A
Publication Date: 2020-02

Variant appearance in text: GLA: C52X
PubMed Link: 31613176
Variant Present in the following documents:
  • Main text
View BVdb publication page