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.

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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.288C>A r.(?) p.(Cys96*) ACMG pathogenic g.197297769C>A g.197328639C>A CRB1 NM_201253: g.127178C>A, c.288C>A, p.C96X - CRB1_000466 - PubMed: Xu 2020 - - Unknown ? - - 0 - LOVD
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