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.

6 entries on 1 page. Showing entries 1 - 6.
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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.138del r.(?) p.(Asp47Ilefs*24) - pathogenic g.197297619del g.197328489del c.[136delA] - CRB1_000066 - PubMed: Li 2014 - - Germline - - - 0 - Frans Cremers
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) - pathogenic g.197297619del g.197328489del c.137delA - CRB1_000066 - PubMed: Huang 2014 - - Germline - - - 0 - Frans Cremers
+?/. - c.138del r.(?) p.(Asp47Ilefs*24) - likely pathogenic g.197297619del g.197328489del c.138delA - CRB1_000066 - PubMed: Huang 2018 - - Germline - - - 0 - LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - 0 - LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - 0 - LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - 0 - LOVD
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