GLA c.19G>T ;(p.E7*)

Variant ID: X-100662873-C-A

NM_000169.2(GLA):c.19G>T;(p.E7*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes
Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP
Publication Date: 2022-09-09

Variant appearance in text: GLA: 19G>T; E7*
PubMed Link: 36140787
Variant Present in the following documents:
  • genes-13-01619.pdf
View BVdb publication page



High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K
Publication Date: 2021-09-27

Variant appearance in text: GLA: E7*
PubMed Link: 34679477
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01779.pdf
View BVdb publication page



Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-11-09

Variant appearance in text: GLA: Glu7X
PubMed Link: 34535801
Variant Present in the following documents:
  • Main text
  • gfab234.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-07-19

Variant appearance in text: GLA: Glu7X
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K
Publication Date: 2021-12-31

Variant appearance in text: GLA: Glu7X
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page



Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics
Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG
Publication Date: 2020-08

Variant appearance in text: GLA: Glu7*
PubMed Link: 32161151
Variant Present in the following documents:
  • jmedgenet-2019-106467supp001.pdf
View BVdb publication page



The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.

Nephron
Moiseev, Sergey S; Fomin, Victor V; Savostyanov, Kirill K; Pushkov, Alexander A; Moiseev, Alexey A; Svistunov, Andrey A; Namazova-Baranova, Leyla L
Publication Date: 2019

Variant appearance in text: GLA: 19G>T; E7X
PubMed Link: 30677769
Variant Present in the following documents:
  • Main text
View BVdb publication page