ClinGen Evidence Repository:
Classification
Likely Benign
Condition
GUCY2D-related recessive retinopathy
Revel Score:
ENST00000254854 (MANE Select)
0.459
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00184994 (SAS)
Genomes Max Group AF
0.00067918 (SAS)
Exomes Max Group AF
0.00187747 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8006651G>A , CM000679.2:g.8006651G>A | GRCh38 |
| NC_000017.10:g.7909969G>A , CM000679.1:g.7909969G>A | GRCh37 |
| NC_000017.9:g.7850694G>A | NCBI36 |
| NG_009092.1:g.8982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1315G>A MANE Select | ENSP00000254854.4:p.Gly439Arg | |
| ENST00000254854.4:c.1315G>A | ENSP00000254854.4:p.Gly439Arg | |
| NM_000180.3:c.1315G>A | NP_000171.1:p.Gly439Arg | |
| XM_011523816.1:c.1315G>A | XP_011522118.1:p.Gly439Arg | |
| NM_000180.4:c.1315G>A MANE Select | NP_000171.1:p.Gly439Arg |