GLA c.142G>C ;(p.E48Q)

Variant ID: X-100662750-C-G

NM_000169.2(GLA):c.142G>C;(p.E48Q)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: E48Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.

Jimd Reports
Cheung, R R; Sillence, D O DO; Tchan, M C MC
Publication Date: 2012

Variant appearance in text: GLA: E48Q
PubMed Link: 23430946
Variant Present in the following documents:
  • Main text
View BVdb publication page