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.

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

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.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T c.80G>C - CRB1_000063 - PubMed: Aldahmesh 2009 - - Unknown - - HpyCH4V- 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - Frans Cremers
+?/. - c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic (recessive) g.197297561G>T - c.80G>T - CRB1_000063 - PubMed: Liu-2020 - - Germline - - - 0 - LOVD
Legend   How to query