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.

2 entries on 1 page. Showing entries 1 - 2.
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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.139del r.(?) p.(Asp47Ilefs*24) ACMG pathogenic g.197297620del g.197328490del NM_201253.2:c.139del, NP_957705.1:p.(Asp47IlefsTer24), NC_000001.10:g.197297620del - CRB1_000424 - PubMed: Wang 2018 - - Germline ? - - 0 - LOVD
+?/. 2 c.139del r.(?) p.(Asp47Ilefs*24) - likely pathogenic (recessive) g.197297620del - c.139delG - CRB1_000424 - PubMed: Liu-2020 - - Germline - - - 0 - LOVD
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