GLA c.569C>T ;(p.A190V)

Variant ID: X-100655724-G-A

NM_000169.2(GLA):c.569C>T;(p.A190V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: A190V
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



MT-CYB mutations in hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine
Hagen, Christian M CM; Aidt, Frederik H FH; Havndrup, Ole O; Hedley, Paula L PL; Jespersgaard, Cathrine C; Jensen, Morten M; Kanters, Jørgen K JK; Moolman-Smook, Johanna C JC; Møller, Daniel V DV; Bundgaard, Henning H; Christiansen, Michael M
Publication Date: 2013-05

Variant appearance in text: GLA: A190V
PubMed Link: 24498601
Variant Present in the following documents:
  • Main text
  • mgg30001-0054.pdf
View BVdb publication page