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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. - c.493_501del r.(?) p.(Ile167_Gly169del) - pathogenic (recessive) g.197297974_197297982del - 1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del) - CRB1_000326 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+/. - c.493_501del r.(?) p.(Ile167_Gly169del) - pathogenic (recessive) g.197297974_197297982del - 1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del) - CRB1_000326 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+/. - c.493_501del r.(?) p.(Ile167_Gly169del) - pathogenic (recessive) g.197297979_197297987del g.197328849_197328857del - - CRB1_000211 - PubMed: Zaneveld 2015 - - Germline - - - 0 - LOVD
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