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.93C>T r.(=) p.(=) - pathogenic g.197297574C>T - 93C?T - CRB1_000410 - PubMed: Li-2009 - - Unknown - - - 0 - LOVD
+/. 2 c.93C>T r.(=) p.(=) - pathogenic g.197297574C>T - 93C?T - CRB1_000410 - PubMed: Li-2009 - - Germline - - - 0 - LOVD
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