Genomic variant #0000059641

Individual ID 00033254
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88530479_88530480delinsA
DNA change (hg38) g.88136702_88136703delinsA
Published as -
ISCN -
DB-ID CEP290_000017 See all 2 reported entries
Variant remarks copied from CEP290 database
Reference -
ClinVar ID -
dbSNP ID -
Origin 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)     

ClassClinical     

RNA change     

Protein     
CEP290 NM_025114.3 +/. 6 c.381_382delinsT - r.(?) p.(Lys127Asnfs*36)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033322 DNA SEQ - - CEP290 1 Johan den Dunnen