Table 4 Genetic Variants and in silico analysis
From: Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy
HGVS description (NM_000274.4) | REVEL score | GnomAD (v2.1.1) Number of non-ref alleles / total number of alleles | Reference (Clinvar & HGMD) |
|---|---|---|---|
c.520 + 1G > A | n/a | Absent | Not reported on HGMD |
c.461G > A p.(Arg154His) | 0.929 | 2/251370 | Ghosh et al. 2017 |
c.1192C > T p.(Arg398Ter) | n/a | 2/250954 | Michaud et al. 1995 |
c.722C > T p.(Pro241Leu) | 0.8999 | 9/251486 | Brody et al. 1992 |
c.152G > A p.(Gly51Asp) | 0.875 | 3/251488 | Sergouniotis et al. 2012 |
c.648G > C p.? | n/a | Absent | Not reported on HGMD |
c.899delC p.(Pro300LeufsTer13) | n/a | Absent | Patel et al. 2018 |
c.1058 G > A p.(Gly353Asp) | 0.9219 | 10/250560 | Brody et al. 1992 |
c.748C > T p.(Arg250Ter) | n/a | 2/251456 | Sergouniotis et al. 2012 |
c.941 T > G p.(Ile314Ser) | 0.9169 | Absent | Not reported on HGMD |
c.627 T > A p.(Tyr209Ter) | n/a | 6/282864 | Mashima et al. 1992 |
c.1250C > T p.(Pro417Leu) | 0.8889 | 8/282378 | Brody et al. 1992 |
c.1208 T > C p.(Leu403Pro) | 0.9449 | 2/282564 | Not reported on HGMD |
c.1009dup p.(Leu337ArgfsTer2) | n/a | Absent | Not reported on HGMD |