Genomic variant #0000059676

Individual ID 00033233
Chromosome 12
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88500847T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000048
Variant remarks copied from CEP290 database
Reference -
dbSNP ID rs11104738
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.03267 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 -/. 24 c.2512A>G - r.(?) p.(Lys838Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033301 DNA SEQ - - CEP290 1 Johan den Dunnen