ClinGen Evidence Repository:
Classification
Pathogenic
Condition
RPE65-related recessive retinopathy
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431508_68431511dup , CM000663.2:g.68431508_68431511dup | GRCh38 |
| NC_000001.10:g.68897191_68897194dup , CM000663.1:g.68897191_68897194dup | GRCh37 |
| NC_000001.9:g.68669779_68669782dup | NCBI36 |
| NG_008472.1:g.23453_23456dup | |
| NG_008472.2:g.23453_23456dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1207_1210dup MANE Select | ENSP00000262340.5:p.Glu404AlafsTer4 | |
| ENST00000262340.5:c.1207_1210dup | ENSP00000262340.5:p.Glu404AlafsTer4 | |
| NM_000329.2:c.1207_1210dup | NP_000320.1:p.Glu404AlafsTer4 | |
| XM_017002027.1:c.931_934dup | XP_016857516.1:p.Glu312AlafsTer4 | |
| NM_000329.3:c.1207_1210dup MANE Select | NP_000320.1:p.Glu404AlafsTer4 |