Genomic variant #0000059624

Individual ID 00033080
Chromosome 12
Allele Parent #2
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88512450G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000004 See all 2 reported entries
Variant remarks copied from CEP290 database
Reference PubMed: Perrault 2007
dbSNP ID -
Germline/Somatic/De novo 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 +/. 16 c.1593C>A - r.(?) p.(Tyr531*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033148 DNA DHPLC - - CEP290 2 Johan den Dunnen