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.508T>C r.(?) p.(Tyr170His) ACMG VUS g.197297989T>C g.197328859T>C CRB1 c.508T>C, p.(Tyr170His), c.2843G>A, p.(Cys948Tyr) - CRB1_000437 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
Legend   How to query