All variants in the EYS gene

Information The variants shown are described using the NM_001142800.1 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+ - c.1308C>A r.(?) p.(Cys436*) Pathogenic g.66063502G>T - EYS_000003 variome.ir
+/+ - c.2023+1G>A r.spl? p.? Pathogenic g.66005755C>T - EYS_000002 Saeed Reza Ghaffari
+/+ - c.6714delT r.(?) p.(Ile2239Serfs*17) Pathogenic g.64776242delA - EYS_000004 variome.ir
+?/+? - c.7187G>T r.(?) p.(Cys2396Phe) VUS LP g.64574120C>A - EYS_000001 Saeed Reza Ghaffari
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