All variants in the CRB1 gene

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     

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     

Owner     
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_197237542)_(197447010_?)del - 700KB del - CRB1_000000 unknown variant 2nd chromosome; CRB1 deleted PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_197237542)_(197447010_?)del - deletion of CRB1 - CRB1_000000 CRB1 deleted PubMed: Aleman 2011 - - Germline - - - 0 - Frans Cremers
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