ClinGen Evidence Repository:
Classification
Pathogenic
Condition
GUCY2D-related recessive retinopathy
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005455 (AMR)
Exomes Max Group AF
0.00007318 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8006679C>A , CM000679.2:g.8006679C>A | GRCh38 |
| NC_000017.10:g.7909997C>A , CM000679.1:g.7909997C>A | GRCh37 |
| NC_000017.9:g.7850722C>A | NCBI36 |
| NG_009092.1:g.9010C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1343C>A MANE Select | ENSP00000254854.4:p.Ser448Ter | |
| ENST00000254854.4:c.1343C>A | ENSP00000254854.4:p.Ser448Ter | |
| NM_000180.3:c.1343C>A | NP_000171.1:p.Ser448Ter | |
| XM_011523816.1:c.1343C>A | XP_011522118.1:p.Ser448Ter | |
| NM_000180.4:c.1343C>A MANE Select | NP_000171.1:p.Ser448Ter |