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.631A>T r.(?) p.(Ile211Phe) - VUS g.197298112A>T g.197328982A>T CRB1 p.Ile211Phe - CRB1_000177 unknown variant 2nd chromosome PubMed: Anasagasti 2013 - - Germline - 0.01 - 0 - Frans Cremers
+/. 2 c.631A>T r.(?) p.(Ile211Phe) - pathogenic (recessive) g.197298112A>T - p.Ile211Phe - CRB1_000177 - PubMed: Anasagasti-2013 - - Germline yes 0.33 - 0 - LOVD
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