GLA c.1045T>A ;(p.W349R)

Variant ID: X-100653042-A-T

NM_000169.2(GLA):c.1045T>A;(p.W349R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics
Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C
Publication Date: 2022

Variant appearance in text: GLA: W349R
PubMed Link: 35722479
Variant Present in the following documents:
  • Main text
  • fped-10-908657.pdf
View BVdb publication page



Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One
Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N
Publication Date: 2016

Variant appearance in text: GLA: 1045T>A; W349R
PubMed Link: 27560961
Variant Present in the following documents:
  • Main text
  • pone.0161330.pdf
View BVdb publication page