ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
RPE65-related recessive retinopathy
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002155 (NFE)
Exomes Max Group AF
0.00002287 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431075_68431077del , CM000663.2:g.68431075_68431077del | GRCh38 |
| NC_000001.10:g.68896758_68896760del , CM000663.1:g.68896758_68896760del | GRCh37 |
| NC_000001.9:g.68669346_68669348del | NCBI36 |
| NG_008472.1:g.23888_23890del | |
| NG_008472.2:g.23888_23890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1443_1445del MANE Select | ENSP00000262340.5:p.Glu481del | |
| ENST00000262340.5:c.1443_1445del | ENSP00000262340.5:p.Glu481del | |
| NM_000329.2:c.1443_1445del | NP_000320.1:p.Glu481del | |
| XM_017002027.1:c.1167_1169del | XP_016857516.1:p.Glu389del | |
| NM_000329.3:c.1443_1445del MANE Select | NP_000320.1:p.Glu481del |