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.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.410del r.(?) p.(Pro137Leufs*11) ACMG likely pathogenic g.197297891del g.197328761del allele 1: c.410del/p.P137Lfs*11, allele 2: c.2843G>A/p.C948Y - CRB1_000436 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - 0 - LOVD
Legend   How to query