ClinGen Evidence Repository:
Classification
Likely Pathogenic
Condition
RPE65-related recessive retinopathy
Revel Score:
ENST00000262340 (MANE Select)
0.847
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00026131 (AMR)
Genomes Max Group AF
0.00081376 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444607C>T , CM000663.2:g.68444607C>T | GRCh38 |
| NC_000001.10:g.68910290C>T , CM000663.1:g.68910290C>T | GRCh37 |
| NC_000001.9:g.68682878C>T | NCBI36 |
| NG_008472.1:g.10353G>A | |
| NG_008472.2:g.10353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.419G>A MANE Select | ENSP00000262340.5:p.Gly140Glu | |
| ENST00000262340.5:c.419G>A | ENSP00000262340.5:p.Gly140Glu | |
| NM_000329.2:c.419G>A | NP_000320.1:p.Gly140Glu | |
| XM_017002027.1:c.143G>A | XP_016857516.1:p.Gly48Glu | |
| NM_000329.3:c.419G>A MANE Select | NP_000320.1:p.Gly140Glu |