Genomic variant #0000059636

Individual ID 00033200
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88534746_88534749del
DNA change (hg38) g.88140969_88140972del
Published as -
ISCN -
DB-ID CEP290_000012
Variant remarks copied from CEP290 database
Reference -
ClinVar ID -
dbSNP ID -
Germline/De novo/Somatic Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 +/. 3 c.164_167del - r.(?) p.(Thr55Serfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033268 DNA SEQ - - CEP290 1 Johan den Dunnen