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GLA c.1078G>A ;(p.G360S)
Variant ID: X-100653009-C-T
NM_000169.2(
GLA
):c.1078G>A;(p.G360S)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Orphanet Journal Of Rare Diseases
Dai, Xuantong X; Zong, Xue X; Pan, Xiaoxia X; Lu, Wei W; Jiang, Geng-Ru GR; Lin, Fujun F
Publication Date: 2022-06-20
Variant appearance in text: GLA: Gly360Ser
PubMed Link:
35725559
Variant Present in the following documents:
Main text
13023_2022_Article_2377.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: G360S
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: Gly360Ser
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: Gly360Ser
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: Gly360Ser
PubMed Link:
34282462
Variant Present in the following documents:
gfaa324.pdf
View BVdb publication page
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Molecular Genetics And Metabolism Reports
Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K
Publication Date: 2018-12
Variant appearance in text: GLA: 1078G>A; G360S
PubMed Link:
30386727
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Plos One
Liguori, Rocco R; Incensi, Alex A; de Pasqua, Silvia S; Mignani, Renzo R; Fileccia, Enrico E; Santostefano, Marisa M; Biagini, Elena E; Rapezzi, Claudio C; Palmieri, Silvia S; Romani, Ilaria I; Borsini, Walter W; Burlina, Alessandro A; Bombardi, Roberto R; Caprini, Marco M; Avoni, Patrizia P; Donadio, Vincenzo V
Publication Date: 2017
Variant appearance in text: GLA: 1078G>A; G360S
PubMed Link:
28672034
Variant Present in the following documents:
Main text
pone.0180581.pdf
View BVdb publication page