Variant #0000487578 (NC_000001.10:g.68912448del, RPE65(NM_000329.2):c.190del)

Individual ID 00240458
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68912448del
DNA change (hg38) g.68446765del
Published as -
ISCN -
DB-ID RPE65_000191 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Juan Carlos Zenteno
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +/. 3 c.190del r.(?) p.(Gln64Lysfs*30)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241568 DNA SEQ-NG-I blood - RPE65 1 Juan Carlos Zenteno