GLA c.426C>A ;(p.C142*)

Variant ID: X-100656741-G-T

NM_000169.2(GLA):c.426C>A;(p.C142*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Central nervous system vasculopathy caused by Fabry disease: a case report.

Bmc Neurology
Kong, De-Zheng DZ; Lian, Ya-Hui YH; Wang, Lin-Jing LJ; Wang, Chun-Mei CM; Meng, Yang-Yang YY; Zhou, Hong-Wei HW
Publication Date: 2019-06-06

Variant appearance in text: GLA: 426C>A; Cys142Ter
PubMed Link: 31170963
Variant Present in the following documents:
  • Main text
  • 12883_2019_Article_1348.pdf
View BVdb publication page



Fabry disease with acute cerebral infarction onset in a young patient.

Chinese Medical Journal
Zhang, Ya-Nan YN; Guo, Zhen-Ni ZN; Zhou, Hong-Wei HW; Cheng, Ying-Ying YY; Feng, Jia-Chun JC; Wang, Zan Z
Publication Date: 2019-02

Variant appearance in text: GLA: 426C>A; Cys142Ter
PubMed Link: 30707173
Variant Present in the following documents:
  • cm9-132-477.pdf
View BVdb publication page