GLA c.974G>A ;(p.G325D)

Variant ID: X-100653383-C-T

NM_000169.2(GLA):c.974G>A;(p.G325D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GLA: 974G>A; Gly325Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases
Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H
Publication Date: 2021-12-14

Variant appearance in text: GLA: 974G>A; G325D
PubMed Link: 34906154
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2136.pdf
View BVdb publication page



Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases
Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H
Publication Date: 2021-12-14

Variant appearance in text: GLA: 974G>A; G325D
PubMed Link: 34906154
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2136.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: Gly325Asp
PubMed Link: 32161151
Variant Present in the following documents:
  • jmedgenet-2019-106467supp001.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: G325D
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: 974G>A; G325D
PubMed Link: 21598360
Variant Present in the following documents:
  • Main text
  • humu0032-0965.pdf
View BVdb publication page