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GLA c.1124G>A ;(p.G375E)
Variant ID: X-100652963-C-T
NM_000169.2(
GLA
):c.1124G>A;(p.G375E)
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:
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Molecular Genetics & Genomic Medicine
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K
Publication Date: 2020-11
Variant appearance in text: GLA: 1124G>A; G375E
PubMed Link:
33016649
Variant Present in the following documents:
Main text
MGG3-8-e1502.pdf
View BVdb publication page
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Orphanet Journal Of Rare Diseases
Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K
Publication Date: 2020-08-26
Variant appearance in text: GLA: 1124G>A; G375E
PubMed Link:
32843101
Variant Present in the following documents:
Main text
13023_2020_Article_1494.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: G375E
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
Molecular Genetics And Metabolism Reports
Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y
Publication Date: 2019-09
Variant appearance in text: GLA: 1124G>A; G375E
PubMed Link:
31372342
Variant Present in the following documents:
Main text
main.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: 1124G>A; G375E
PubMed Link:
30386727
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Cen Case Reports
Iwafuchi, Yoichi Y; Maruyama, Hiroki H; Morioka, Tetsuo T; Noda, Seiko S; Nagata, Hiroshi H; Oyama, Yuko Y; Narita, Ichiei I
Publication Date: 2017-11
Variant appearance in text: GLA: 1124G>A; G375E
PubMed Link:
29019163
Variant Present in the following documents:
Main text
View BVdb publication page