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.




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