Full data view for gene GPC3

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

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.93_94insCCG r.(?) p.(Pro31dup) Parent #2 g.133119383_133119384insCGG - GPC3_000019 - - Germline - - - - DNA SEQ-NG-I 1 ENC - F Archaia Olympia Arta Greek no - 1 Despoina Kalfakakou
?/? - c.176-50G>A r.(=) p.(=) Parent #2 g.133087288C>T - GPC3_000012 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sycurium, Larisa Ampelakia, Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.204G>A r.(=) p.(=) Parent #2 g.133087210C>T - GPC3_000026 rs61754632 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Paros - Greek no - 1 Despoina Kalfakakou
?/? - c.338-20_338-19insG r.(=) p.(=) Both (homozygous) g.132888222_132888223insC - GPC3_000009 - - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Mani Kalamata Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>C r.(=) p.(=) Parent #2 g.132888222A>G - GPC3_000018 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Vonitsa Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>C r.(=) p.(=) Parent #2 g.132888222A>G - GPC3_000018 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Volos Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>G r.(=) p.(=) Parent #2 g.132888222A>C - GPC3_000008 - - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Mani Kalamata Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>G r.(=) p.(=) Parent #2 g.132888222A>C - GPC3_000008 - - Germline - - - - DNA SEQ-NG-I 1 - - F Livadeia - Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>G r.(=) p.(=) Parent #2 g.132888222A>C - GPC3_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gjirokaster, Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.338-19T>G r.(=) p.(=) Parent #2 g.132888222A>C - GPC3_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mavrochori, Kastoria - Greek no - 1 Despoina Kalfakakou
?/? - c.338-18T>C r.(=) p.(=) Parent #2 g.132888221A>G - GPC3_000025 - - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Feneos, Corinthia Rodena, Corinthia - - - 1 Despoina Kalfakakou
?/? - c.392A>G r.(?) p.(Lys131Arg) Parent #2 g.132888149T>C - GPC3_000005 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
-?/-? - c.483C>T r.(=) p.(=) Parent #2 g.132888058G>A - GPC3_000022 rs1603240705 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
-?/-? - c.876T>C r.(=) p.(=) Parent #2 g.132887665A>G - GPC3_000020 rs61754633 - Germline - - - - DNA SEQ-NG-I 1 BKT - F Smyrna Agrinio Greek no - 1 Despoina Kalfakakou
-?/-? - c.876T>C r.(=) p.(=) Parent #2 g.132887665A>G - GPC3_000020 rs61754633 - Germline - - - - DNA SEQ-NG-I 1 CAL, NF - F Uzbekistan Georgia Greek no - 2 Despoina Kalfakakou
-?/-? - c.876T>C r.(=) p.(=) Parent #2 g.132887665A>G - GPC3_000020 rs61754633 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - F Xanthi - Greek no - 1 Despoina Kalfakakou
?/? - c.955G>A r.(?) p.(Val319Ile) Parent #2 g.132887586C>T - GPC3_000007 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1147G>T r.(?) p.(Ala383Ser) Parent #2 g.132834011C>A - GPC3_000021 rs779187915 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.1227C>T r.(=) p.(=) Parent #2 g.132833931G>A - GPC3_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.1227C>T r.(=) p.(=) Parent #2 g.132833931G>A - GPC3_000013 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vianos, Heraklion Patra Greek no - 1 Despoina Kalfakakou
?/? - c.1236-50A>G r.(=) p.(=) Parent #2 g.132826572T>C - GPC3_000004 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ellotia, Thiva - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-50A>G r.(=) p.(=) Parent #2 g.132826572T>C - GPC3_000004 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CC, TRC - F Samos Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1236-50A>G r.(=) p.(=) Parent #2 g.132826572T>C - GPC3_000004 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Galaxidi, Phocis Trizonia, Phocis Greek no - 1 Despoina Kalfakakou
?/? - c.1236-50A>G r.(=) p.(=) Parent #2 g.132826572T>C - GPC3_000004 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Drama Samos Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavrita Troizina Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Piraeus Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Galati, Romania - Romanian no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Both (homozygous) g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Arta - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Serres Therma, Serres Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia - Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Limnos Serres Greek no - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Troizinia - - - 1 Despoina Kalfakakou
?/? - c.1236-27T>C r.(=) p.(=) Parent #2 g.132826549A>G - GPC3_000002 - - Germline - - - - DNA SEQ-NG-I 1 TSC1 - F - - - - - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Both (homozygous) g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 BrCa, SkCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Both (homozygous) g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - - - - - - - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Parent #2 g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada - Greek no - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Parent #2 g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Parent #2 g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kozani - Greek no - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Parent #2 g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Haliacmon, Kozani Siatista, Kozani Greek no - 1 Despoina Kalfakakou
-/- - c.1236-8T>C r.(=) p.(=) Parent #2 g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Patras - Greek no - 1 Despoina Kalfakakou
-/- - c.1323C>T r.(=) p.(=) Parent #2 g.132826435G>A - GPC3_000011 rs150766741 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Athens Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida - Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Kymi, Evia Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 7 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 - - F Asia Minor Patras Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gouves, Heraklion Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios - Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.1354G>A r.(?) p.(Val452Met) Parent #2 g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Metochi, Evia Agrinio Greek no - 1 Despoina Kalfakakou
?/? - c.1361+20A>T r.(=) p.(=) Parent #2 g.132826377T>A - GPC3_000016 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tinos - Greek no - 7 Despoina Kalfakakou
?/? - c.1362-50T>C r.(=) p.(=) Parent #2 g.132795928A>G - GPC3_000006 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1362-50T>C r.(=) p.(=) Parent #2 g.132795928A>G - GPC3_000006 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Prousa, Asia Minor Siros Greek no - 1 Despoina Kalfakakou
?/? - c.1362-50T>C r.(=) p.(=) Parent #2 g.132795928A>G - GPC3_000006 - - Germline - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1362-50T>C r.(=) p.(=) Parent #2 g.132795928A>G - GPC3_000006 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sifnos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1365C>T r.(=) p.(=) Parent #2 g.132795875G>A - GPC3_000015 rs946461494 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Foiniki, Laconia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1365C>T r.(=) p.(=) Parent #2 g.132795875G>A - GPC3_000015 rs946461494 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
?/? - c.1483-60_1483-42del r.(=) p.(=) Parent #2 g.132730669_132730687del - GPC3_000017 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Galati, Romania - Romanian no - 1 Despoina Kalfakakou
?/? - c.1643-40G>T r.(=) p.(=) Parent #2 g.132670361C>A - GPC3_000024 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 BrCa, PGL4 - F Sparti - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Korifi, Kilkis Greek no - 2 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Koilada, Argolis Greek no - 6 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Amfissa, Phocis Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, OVCA - F Klisto, Evrytania - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kiato, Corinthia - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Both (homozygous) g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 - - M Euboea - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 SRCM - F Bulgaria Platamon, Pieria Bulgarian-Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1643-7_1643-4del r.spl? p.? Parent #2 g.132670325_132670328del - GPC3_000001 rs751413609 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Rumelia Trabzon Greek no - 1 Despoina Kalfakakou
-?/-? - c.1674G>A r.(=) p.(=) Parent #2 g.132670290C>T - GPC3_000023 rs767097459 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.*8G>T r.(=) p.(=) Parent #2 g.132670144C>A - GPC3_000014 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.*8G>T r.(=) p.(=) Parent #2 g.132670144C>A - GPC3_000014 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
Legend