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.
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.276G>C r.(?) p.(Arg92Ser) - likely benign g.197297757G>C g.197328627G>C CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S) - CRB1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.276G>C r.(?) p.(Arg92Ser) - likely benign g.197297757G>C - CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S) - CRB1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query