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.

9 entries on 1 page. Showing entries 1 - 9.
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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.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: den Hollander 2004 - - Germline - - Hpy188III+;HpyAV+;HpyCH4V-;LpnPI- 0 - Frans Cremers
+?/. 2 c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T Cys195Phe - CRB1_000214 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+?/. 2 c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T Cys195Phe - CRB1_000214 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+?/. - c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic (recessive) g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: Taylor 2017 - - Germline - - - 0 - LOVD
+?/. - c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. - c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic g.197298065G>T g.197328935G>T - - CRB1_000214 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. 2 c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic (recessive) g.197298065G>T - c.584G>T - CRB1_000214 - PubMed: Khan-2018 - - Germline - - - 0 - LOVD
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