Variant #0000016617 (NC_000012.11:g.88465567del, NM_025114.3:c.5850del (CEP290))

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.88465567del
DNA change (hg38) g.88071790del
Published as 5850delT (Phe1950fs)
ISCN -
DB-ID CEP290_000092 See all 10 reported entries
Variant remarks CEP290 database
Reference -
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne Polvi
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Anne Polvi
Date created 2012-12-04 16:02:59 +01:00 (CET)
Date last edited 2023-11-27 21:40:50 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP290 NM_025114.3 +/. 42 c.5850del r.(5850del) p.(Phe1950Leufs*15)


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