ClinGen Evidence Repository:
Classification
Pathogenic
Condition
RPE65-related recessive retinopathy
Revel Score:
ENST00000262340 (MANE Select)
0.898
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002864 (SAS)
Exomes Max Group AF
0.00002995 (SAS)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68448644G>A , CM000663.2:g.68448644G>A | GRCh38 |
| NC_000001.10:g.68914327G>A , CM000663.1:g.68914327G>A | GRCh37 |
| NC_000001.9:g.68686915G>A | NCBI36 |
| NG_008472.1:g.6316C>T | |
| NG_008472.2:g.6316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.74C>T MANE Select | ENSP00000262340.5:p.Pro25Leu | |
| ENST00000262340.5:c.74C>T | ENSP00000262340.5:p.Pro25Leu | |
| NM_000329.2:c.74C>T | NP_000320.1:p.Pro25Leu | |
| XM_017002027.1:c.-52C>T | XP_016857516.1:n.-52C>T | |
| NM_000329.3:c.74C>T MANE Select | NP_000320.1:p.Pro25Leu |