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.

4 entries on 1 page. Showing entries 1 - 4.
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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.424G>T r.(?) p.(Gly142*) - pathogenic g.197297905G>T g.197328775G>T - - CRB1_000070 - PubMed: Beryozkin 2013 - - Germline - - - 0 - Frans Cremers
+/. 2 c.424G>T r.(?) p.(Gly142*) - pathogenic g.197297905G>T g.197328775G>T - - CRB1_000070 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
+/. - c.424G>T r.(?) p.(Gly142*) ACMG pathogenic g.197297905G>T - - - CRB1_000070 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.424G>T r.(?) p.(Gly142*) ACMG pathogenic g.197297905G>T - - - CRB1_000070 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - Global Variome, with Curator vacancy
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