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.

3 entries on 1 page. Showing entries 1 - 3.
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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.428_432del r.(?) p.(Arg143Metfs*2) - pathogenic g.197297909_197297913del g.197328779_197328783del 5 bp del 143-144 - CRB1_000216 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 1/190 cases HinfI-;MboII-;TfiI- 0 - Frans Cremers
+/. 2 c.428_432del r.(?) p.(Arg143Metfs*2) - pathogenic g.197297909_197297913del g.197328779_197328783del Arg143 del5 - CRB1_000216 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+?/. - c.428_432del r.(?) p.(Arg143Metfs*2) - likely pathogenic g.197297909_197297913del g.197328779_197328783del 428_432delGATTC - CRB1_000216 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
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