ClinGen Evidence Repository:
Classification
Pathogenic
Condition
RPE65-related recessive retinopathy
MyVariant.info:
GRCh38
chr1:g.68438978dupT
GRCh38
chr1:g.68438977_68438978insT
GRCh37
chr1:g.68904661dupT
GRCh37
chr1:g.68904660_68904661insT
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.0000192 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438979dup , CM000663.2:g.68438979dup | GRCh38 |
| NC_000001.10:g.68904662dup , CM000663.1:g.68904662dup | GRCh37 |
| NC_000001.9:g.68677250dup | NCBI36 |
| NG_008472.1:g.15982dup | |
| NG_008472.2:g.15982dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.962dup MANE Select | ENSP00000262340.5:p.Asn321LysfsTer15 | |
| ENST00000262340.5:c.962dup | ENSP00000262340.5:p.Asn321LysfsTer15 | |
| NM_000329.2:c.962dup | NP_000320.1:p.Asn321LysfsTer15 | |
| XM_017002027.1:c.686dup | XP_016857516.1:p.Asn229LysfsTer15 | |
| NM_000329.3:c.962dup MANE Select | NP_000320.1:p.Asn321LysfsTer15 |