Genomic variant #0000059769

Individual ID 00033208
Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88534731A>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000131 See all 3 reported entries
Variant remarks -
Reference OMIM:var0009
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 +/. 3i c.180+2T>A - r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033276 DNA SEQ - - CEP290 1 Johan den Dunnen