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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup 86–87ins2bp - CRB1_000068 unknown variant 2nd chromosome PubMed: Jacobson 2003 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup 2 bp ins codon 86-87 - CRB1_000068 - PubMed: Lotery 2001 - - Germline - 1/190 cases - 0 - Frans Cremers
+/. - c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup 252_253insTG - CRB1_000068 - PubMed: Ge 2015 - - Germline - - - 0 - LOVD
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