ClinGen Evidence Repository:
Classification
Pathogenic
Condition
RPE65-related recessive retinopathy
MyVariant.info:
GRCh38
chr1:g.68439051del
GRCh38
chr1:g.68439048del
GRCh38
chr1:g.68439047del
GRCh37
chr1:g.68904734del
GRCh37
chr1:g.68904730del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00007047 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68439051del , CM000663.2:g.68439051del | GRCh38 |
| NC_000001.10:g.68904734del , CM000663.1:g.68904734del | GRCh37 |
| NC_000001.9:g.68677322del | NCBI36 |
| NG_008472.1:g.15913del | |
| NG_008472.2:g.15913del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.893del MANE Select | ENSP00000262340.5:p.Lys298SerfsTer27 | |
| ENST00000262340.5:c.893del | ENSP00000262340.5:p.Lys298SerfsTer27 | |
| NM_000329.2:c.893del | NP_000320.1:p.Lys298SerfsTer27 | |
| XM_017002027.1:c.617del | XP_016857516.1:p.Lys206SerfsTer27 | |
| NM_000329.3:c.893del MANE Select | NP_000320.1:p.Lys298SerfsTer27 |