GLA c.656T>C ;(p.I219T)

Variant ID: X-100653918-A-G

NM_000169.2(GLA):c.656T>C;(p.I219T)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development
Lenders, Malte M; Stappers, Franciska F; Brand, Eva E
Publication Date: 2020-12-11

Variant appearance in text: GLA: I219T
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 656T>C; I219T
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: I219T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GLA: I219T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Human Mutation
Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Dobrovolny, Robert R; Huang, Ai-Chu AC; Yeh, Hui-Ying HY; Chao, May-Chin MC; Lin, Shio-Jean SJ; Kitagawa, Teruo T; Desnick, Robert J RJ; Hsu, Li-Wen LW
Publication Date: 2009-10

Variant appearance in text: GLA: 656T>C; I219T
PubMed Link: 19621417
Variant Present in the following documents:
  • Main text
View BVdb publication page