GLA c.413G>A ;(p.G138E)

Variant ID: X-100656754-C-T

NM_000169.2(GLA):c.413G>A;(p.G138E)

This variant was identified in 7 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: Gly138Glu
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: Gly138Glu
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: Gly138Glu
PubMed Link: 34282462
Variant Present in the following documents:
  • gfaa324.pdf
View BVdb publication page


Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.

Frontiers In Medicine
Battaglia, Yuri Y; Fiorini, Fulvio F; Azzini, Cristiano C; Esposito, Pasquale P; De Vito, Alessandro A; Granata, Antonio A; Storari, Alda A; Mignani, Renzo R
Publication Date: 2021

Variant appearance in text: GLA: G138E
PubMed Link: 33634157
Variant Present in the following documents:
  • Main text
  • fmed-08-640876.pdf
View BVdb publication page


Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Jimd Reports
Nampoothiri, Sheela S; Yesodharan, Dhanya D; Bhattacherjee, Amrita A; Ahamed, Hisham H; Puri, Ratna Dua RD; Gupta, Neerja N; Kabra, Madhulika M; Ranganath, Prajnya P; Bhat, Meenakshi M; Phadke, Shubha S; Radha Rama Devi, Akella A; Jagadeesh, Sujatha S; Danda, Sumita S; Sylaja, Padmavathy Narayana PN; Mandal, Kausik K; Bijarnia-Mahay, Sunita S; Makkar, Ravinder R; Verma, Ishwar Chander IC; Dalal, Ashwin A; Ramaswami, Uma U
Publication Date: 2020-11

Variant appearance in text: GLA: Gly138Glu
PubMed Link: 33204599
Variant Present in the following documents:
  • Main text
  • JMD2-56-82.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: G138E
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: G138E
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page


A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
Publication Date: 2011-08

Variant appearance in text: GLA: 413G>A; G138E
PubMed Link: 21598360
Variant Present in the following documents:
  • Main text
  • humu0032-0965.pdf
View BVdb publication page