Full data view for gene ALK

Information The variants shown are described using the NM_004304.4 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eksochori, Messenia - - - - 2 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus & Galaxidi Athens & Lamia - - - 5 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - M Exochi, Argolida - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia & Istanbul Manolada, Elis - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - M Sitia, Crete - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno,Crete - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corum,Turkey Mikra Asia Greek - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Euboea - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Syros & Thrace - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Fostaina, Achaea Athani, Lefkada - - - 4 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Andros - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Messini - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Skyros Naxos & Klepa,Nafpaktia - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Parent #2 g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Chania , Crete - - - - 1 Stevi Xera
./. - c.2535T>C r.(=) p.(=) Both (homozygous) g.29455267A>G - ALK_000126 rs2256740 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lesbos Granitsa, Ioannina - - - 2 Stevi Xera
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