Genomic variant #0000059630

Individual ID 00033143
Chromosome 12
Allele Parent #2
Affects function (reported) Probably affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.88508258T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CEP290_000007 See all 2 reported entries
Variant remarks predicted to affect function, but insufficient evidence for definite conclusion
Reference PubMed: Neveling 2012
dbSNP ID -
Germline/Somatic/De novo Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00936 View details
Owner Kornelia Neveling




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Class.     

RNA change     

Protein     
CEP290 NM_025114.3 +?/. 20 c.1991A>G - r.(?) p.(Asp664Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033211 DNA SEQ;SEQ-NG-S - - CEP290, SEMA4A 3 Kornelia Neveling