Unique variants in gene GPC3

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.93_94insCCG r.(?) p.(Pro31dup) g.133119383_133119384insCGG - GPC3_000019 - - - - Despoina Kalfakakou
./. 1 - c.176-50G>A r.(=) p.(=) g.133087288C>T - GPC3_000012 - - - - Despoina Kalfakakou
./. 1 - c.338-20_338-19insG r.(=) p.(=) g.132888222_132888223insC - GPC3_000009 - - - - Despoina Kalfakakou
./. 2 - c.338-19T>C r.(=) p.(=) g.132888222A>G - GPC3_000018 - - - - Despoina Kalfakakou
./. 4 - c.338-19T>G r.(=) p.(=) g.132888222A>C - GPC3_000008 - - - - Despoina Kalfakakou
./. 1 - c.392A>G r.(?) p.(Lys131Arg) g.132888149T>C - GPC3_000005 - - - - Despoina Kalfakakou
./. 1 - c.483C>T r.(=) p.(=) g.132888058G>A - GPC3_000022 - - - - Despoina Kalfakakou
./. 3 - c.876T>C r.(=) p.(=) g.132887665A>G - GPC3_000020 rs61754633 - - - Despoina Kalfakakou
./. 1 - c.955G>A r.(?) p.(Val319Ile) g.132887586C>T - GPC3_000007 - - - - Despoina Kalfakakou
./. 1 - c.1147G>T r.(?) p.(Ala383Ser) g.132834011C>A - GPC3_000021 - - - - Despoina Kalfakakou
./. 2 - c.1227C>T r.(=) p.(=) g.132833931G>A - GPC3_000013 - - - - Despoina Kalfakakou
./. 4 - c.1236-50A>G r.(=) p.(=) g.132826572T>C - GPC3_000004 - - - - Despoina Kalfakakou
./. 12 - c.1236-27T>C r.(=) p.(=) g.132826549A>G - GPC3_000002 - - - - Despoina Kalfakakou
./. 7 - c.1236-8T>C r.(=) p.(=) g.132826530A>G - GPC3_000003 - - - - Despoina Kalfakakou
./. 1 - c.1323C>T r.(=) p.(=) g.132826435G>A - GPC3_000011 - - - - Despoina Kalfakakou
./. 8 - c.1354G>A r.(?) p.(Val452Met) g.132826404C>T - GPC3_000010 rs41312608 - - - Despoina Kalfakakou
./. 1 - c.1361+20A>T r.(=) p.(=) g.132826377T>A - GPC3_000016 - - - - Despoina Kalfakakou
./. 4 - c.1362-50T>C r.(=) p.(=) g.132795928A>G - GPC3_000006 - - - - Despoina Kalfakakou
./. 2 - c.1365C>T r.(=) p.(=) g.132795875G>A - GPC3_000015 - - - - Despoina Kalfakakou
./. 1 - c.1483-60_1483-42del r.(=) p.(=) g.132730669_132730687del - GPC3_000017 - - - - Despoina Kalfakakou
./. 12 - c.1643-7_1643-4del r.spl? p.? g.132670325_132670328del - GPC3_000001 - - - - Despoina Kalfakakou
./. 1 - c.1674G>A r.(=) p.(=) g.132670290C>T - GPC3_000023 - - - - Despoina Kalfakakou
./. 2 - c.*8G>T r.(=) p.(=) g.132670144C>A - GPC3_000014 - - - - Despoina Kalfakakou
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