Genomic variant #0000059668

Individual ID 00033220
Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88505633A>G
DNA change (hg38) g.88111856A>G
Published as -
ISCN -
DB-ID CEP290_000041 See all 3 reported entries
Variant remarks copied from CEP290 database
Reference -
ClinVar ID -
dbSNP ID -
Germline/De novo/Somatic Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.13844 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 -/. 21 c.2055T>C - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033288 DNA SEQ - - CEP290 1 Johan den Dunnen