Genomic variant #0000059753

Individual ID 00033219
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88508167del
DNA change (hg38) g.88114390del
Published as -
ISCN -
DB-ID CEP290_000118 See all 2 reported entries
Variant remarks copied from CEP290 database
Reference -
ClinVar ID -
dbSNP ID rs11358611
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03725 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CEP290 NM_025114.3 -/. 20i c.2052+30del - r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033287 DNA SEQ - - CEP290 1 Johan den Dunnen