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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. - c.664G>A r.(?) p.(Glu222Lys) - VUS g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs114846212 Germline - 37/1204 cases with retinitis pigmentosa - 0 - Yoshito Koyanagi
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
+?/. - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive) g.197313422G>A g.197344292G>A - - CRB1_000276 - PubMed: Xu 2014 - rs114846212 Germline - 6/314 case chromosomes - 0 - LOVD
?/. - c.664G>A r.(?) p.(Glu222Lys) - VUS g.197313422G>A g.197344292G>A CRB1 c.664G>A, p.E222K - CRB1_000276 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - 0 - LOVD
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