GLA c.574A>T ;(p.N192Y)

Variant ID: X-100655719-T-A

NM_000169.2(GLA):c.574A>T;(p.N192Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene.

Cureus
Sarsam, Luay L; Arouni, Amy A; Mahfood Haddad, Toufik T; Onaiwu, Cherry O CO; Erickson, Christopher C
Publication Date: 2020-03-13

Variant appearance in text: GLA: 574A>T
PubMed Link: 32292674
Variant Present in the following documents:
  • Main text
  • cureus-0012-00000007262.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: N192Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page