Full data view for gene CRB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 Unknown - pathogenic g.(?_197237542)_(197447010_?)del - 700KB del - CRB1_000000 unknown variant 2nd chromosome; CRB1 deleted PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Frans Cremers
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #2 - pathogenic g.(?_197237542)_(197447010_?)del - deletion of CRB1 - CRB1_000000 CRB1 deleted PubMed: Aleman 2011 - - Germline - - - 0 - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - 0 - - 8 Frans Cremers
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