Table 4 GLA variants observed in JIA Patients cohort and its frequency in Normal population according to Vep Ensembl
From: Frequency of Fabry disease in a juvenile idiopathic arthritis cohort
Variants | Description | GLA Location | Vep Ensembl Freq. |
|---|---|---|---|
c.-10C > T | rs2071225 | 5’UTR of exon 1 | 0.09546 |
c.-12G > A | rs3027585 | 5’UTR of exon 1 | 0.06110 |
c.370-81_-77del | rs5903184 | 2 | 0.1571 |
c.548-125C > G | rs2071396 | 3 | 0.1372 |
c.548-162A > T | Never described | 3 | Never described |
c.640-16A > G | rs2071397 | 4 | 0.1447 |
c.1000-22C > T | rs2071228 | 6 | 0.2542 |