Full data view for gene CEP290

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
Information The variants shown are described using the NM_025114.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 3i c.180+2T>A r.spl p.? Unknown - likely pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.180+2T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - PubMed: Baala 2007, OMIM:var0009 - - Germline yes - - - - DNA SEQ - - MKS Fam4Pat304 PubMed: Baala 2007 family, 2 affected - - France;Tunisia - - - - - 2 Johan den Dunnen
+/. 3i c.180+2T>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.88534731A>T g.88140954A>T - - CEP290_000131 - PubMed: Baala 2007 - - Germline yes - - - - DNA SEQ - - MKS Fam4Pat303 PubMed: Baala 2007 relative - - France;Tunisia - - - - - 1 Johan den Dunnen
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