All variants in the IMPG2 gene

Information The variants shown are described using the NM_016247.3 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.334+1G>A r.spl? p.? Pathogenic g.101038427C>T - IMPG2_000002 variome.ir
+/+ - c.1487_1508del r.(?) p.(Thr496Argfs*10) Pathogenic g.100964681_100964702del - IMPG2_000001 variome.ir
?/? - c.2222C>G r.(?) p.(Ala741Gly) VUS g.100962953G>C - IMPG2_000004 variome.ir
+?/+? - c.3052G>A r.(?) p.(Ala1018Thr) VUS LP g.100951806C>T - IMPG2_000003 variome.ir
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