ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
GUCY2D-related recessive retinopathy
Revel Score:
ENST00000254854 (MANE Select)
0.547
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020422 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00021366 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003354G>A , CM000679.2:g.8003354G>A | GRCh38 |
| NC_000017.10:g.7906672G>A , CM000679.1:g.7906672G>A | GRCh37 |
| NC_000017.9:g.7847397G>A | NCBI36 |
| NG_009092.1:g.5685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.307G>A MANE Select | ENSP00000254854.4:p.Glu103Lys | |
| ENST00000254854.4:c.307G>A | ENSP00000254854.4:p.Glu103Lys | |
| NM_000180.3:c.307G>A | NP_000171.1:p.Glu103Lys | |
| XM_011523816.1:c.307G>A | XP_011522118.1:p.Glu103Lys | |
| NM_000180.4:c.307G>A MANE Select | NP_000171.1:p.Glu103Lys |