Unique variants in the CNGB1 gene

Information The variants shown are described using the NM_001297.4 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+ 1 - c.290+1G>A r.spl? p.? Pathogenic g.57998033C>T - CNGB1_000002 variome.ir
+/+ 1 - c.1431C>A r.(?) p.(Cys477*) Pathogenic g.57965724G>T - CNGB1_000003 variome.ir
+?/+? 1 - c.2293C>T r.(?) p.(Arg765Cys) VUS LP g.57949164G>A - CNGB1_000001 variome.ir
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