ClinGen Evidence Repository:
Classification
Pathogenic
Condition
RPE65-related recessive retinopathy
Revel Score:
ENST00000262340 (MANE Select)
0.987
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439571A>C , CM000663.2:g.68439571A>C | GRCh38 |
| NC_000001.10:g.68905254A>C , CM000663.1:g.68905254A>C | GRCh37 |
| NC_000001.9:g.68677842A>C | NCBI36 |
| NG_008472.1:g.15389T>G | |
| NG_008472.2:g.15389T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.715T>G MANE Select | ENSP00000262340.5:p.Tyr239Asp | |
| ENST00000262340.5:c.715T>G | ENSP00000262340.5:p.Tyr239Asp | |
| NM_000329.2:c.715T>G | NP_000320.1:p.Tyr239Asp | |
| XM_017002027.1:c.439T>G | XP_016857516.1:p.Tyr147Asp | |
| NM_000329.3:c.715T>G MANE Select | NP_000320.1:p.Tyr239Asp |