GLA c.207C>A ;(p.F69L)

Variant ID: X-100658961-G-T

NM_000169.2(GLA):c.207C>A;(p.F69L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 207C>A; F69L
PubMed Link: 32843101
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1494.pdf
View BVdb publication page



Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases
Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB
Publication Date: 2020-01-29

Variant appearance in text: GLA: 207C>A; F69L
PubMed Link: 31996269
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1274.pdf
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: GLA: F69L
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
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: 207C>A
PubMed Link: 30386727
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease.

Human Genome Variation
Umeda, Toshiko T; Hashimoto, Seiji S; Noriyasu, Kazuyuki K; Takamura, Ayumi A; Fujisaki, Miwa M; Eto, Yoshikatsu Y
Publication Date: 2015

Variant appearance in text: GLA: 207C>A
PubMed Link: 27081550
Variant Present in the following documents:
  • Main text
View BVdb publication page