Variant #0000000003 (NC_000012.11:g.88443060_88443061insAAG, CEP290(NM_025114.3):c.7340_7341insCTT)

Individual ID 00000002
Chromosome 12
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.88443060_88443061insAAG
Reference -
DB-ID CEP290_000002
Average frequency (gnomAD v.2.1.1) Retrieve
Owner variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Classification     
CEP290 NM_025114.3 +/+ - c.7340_7341insCTT r.(?) p.(Lys2447delinsAsnLeu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000002 DNA SEQ-NG CEP290 2 variome.ir