GLA c.599A>C ;(p.Y200S)

Variant ID: X-100655694-T-G

NM_000169.2(GLA):c.599A>C;(p.Y200S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2021-10

Variant appearance in text: GLA: Tyr200Ser
PubMed Link: 33024316
Variant Present in the following documents:
  • 41436_2020_Article_1000.pdf
View BVdb publication page



Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ
Publication Date: 2020-06

Variant appearance in text: GLA: Tyr200Ser
PubMed Link: 32203225
Variant Present in the following documents:
  • Main text
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: Y200S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page