ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
RPE65-related recessive retinopathy
Revel Score:
ENST00000262340 (MANE Select)
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444819C>G , CM000663.2:g.68444819C>G | GRCh38 |
| NC_000001.10:g.68910502C>G , CM000663.1:g.68910502C>G | GRCh37 |
| NC_000001.9:g.68683090C>G | NCBI36 |
| NG_008472.1:g.10141G>C | |
| NG_008472.2:g.10141G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.310G>C MANE Select | ENSP00000262340.5:p.Gly104Arg | |
| ENST00000262340.5:c.310G>C | ENSP00000262340.5:p.Gly104Arg | |
| NM_000329.2:c.310G>C | NP_000320.1:p.Gly104Arg | |
| XM_017002027.1:c.34G>C | XP_016857516.1:p.Gly12Arg | |
| NM_000329.3:c.310G>C MANE Select | NP_000320.1:p.Gly104Arg |