Genomic variant #0000052395

Individual ID 00028923
Chromosome 12
Allele Parent #2
Affects function (reported) Probably affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88487681dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000055 See all 2 reported entries
Variant remarks -
Reference -
dbSNP ID rs6264057
Germline/Somatic/De novo Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Sanne Savelberg




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 +?/. 28 c.3175dup - r.(?) p.(Ile1059Asnfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000028955 DNA SEQ-NG-S blood - CEP290 2 Sanne Savelberg