Genomic variant #0000079582

Individual ID 00050657
Chromosome 12
Allele Paternal (confirmed)
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88500654G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000150
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00025 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 ./. - c.2615C>T - r.(?) p.(Ser872Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050602 DNA SEQ;SEQ-NG-I - - CEP290 2 Johan den Dunnen