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GLA c.1171A>G ;(p.K391E)
Variant ID: X-100652916-T-C
NM_000169.2(
GLA
):c.1171A>G;(p.K391E)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Current Issues In Molecular Biology
Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S
Publication Date: 2021-06-19
Variant appearance in text: GLA: 1171A>G; K391E
PubMed Link:
34205365
Variant Present in the following documents:
Main text
cimb-43-00032.pdf
View BVdb publication page
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: 1171A>G; K391E
PubMed Link:
33016649
Variant Present in the following documents:
Main text
MGG3-8-e1502.pdf
View BVdb publication page
Newborn screening for Fabry disease in the western region of Japan.
Molecular Genetics And Metabolism Reports
Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2020-03
Variant appearance in text: GLA: K391E
PubMed Link:
31956509
Variant Present in the following documents:
Main text
main.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: K391E
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Maruyama, Hiroki H; Miyata, Kaori K; Mikame, Mariko M; Taguchi, Atsumi A; Guili, Chu C; Shimura, Masaru M; Murayama, Kei K; Inoue, Takeshi T; Yamamoto, Saori S; Sugimura, Koichiro K; Tamita, Koichi K; Kawasaki, Toshihiro T; Kajihara, Jun J; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Teiko T; Murata, Ichijiro I; Oda, Takamasa T; Toyoda, Shigeru S; Hanawa, Kenichiro K; Fujimura, Takeo T; Ura, Shigehisa S; Matsumura, Mimiko M; Takano, Hideki H; Yamashita, Satoshi S; Matsukura, Gaku G; Tazawa, Ryushi R; Shiga, Tsuyoshi T; Ebato, Mio M; Satoh, Hiroshi H; Ishii, Satoshi S
Publication Date: 2019-01
Variant appearance in text: GLA: K391E
PubMed Link:
29543226
Variant Present in the following documents:
Main text
41436_2018_Article_239.pdf
View BVdb publication page