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GLA c.1250T>C ;(p.L417P)
Variant ID: X-100652837-A-G
NM_000169.2(
GLA
):c.1250T>C;(p.L417P)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
X-chromosomal inactivation patterns in women with Fabry disease.
Molecular Genetics & Genomic Medicine
Wagenhäuser, Laura L; Rickert, Vanessa V; Sommer, Claudia C; Wanner, Christoph C; Nordbeck, Peter P; Rost, Simone S; Üçeyler, Nurcan N
Publication Date: 2022-09
Variant appearance in text: GLA: L417P
PubMed Link:
35971858
Variant Present in the following documents:
Main text
MGG3-10-e2029.pdf
View BVdb publication page
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.
Molecular Genetics And Metabolism Reports
Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H
Publication Date: 2020-12
Variant appearance in text: GLA: L417P
PubMed Link:
33072516
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: L417P
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: 1250T>C; L417P
PubMed Link:
30386727
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page