Genomic variant #0000162796

Individual ID 00100094
Chromosome 12
Allele Both (homozygous)
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88534765G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000154 See all 2 reported entries
Variant remarks -
Reference -
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation needs Curator approval
Average frequency (large NGS studies) Variant not found in online data sets
Owner James Hejtmancik




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 +/. 3 c.148C>T - r.(?) p.(His50Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100497 DNA SEQ WBC - CEP290 1 James Hejtmancik