Full data view for gene AIP

Information The variants shown are described using the NM_003977.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-75A>T r.(=) p.(=) Parent #2 g.67250555A>T - AIP_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene Athens Greek no - 1 Despoina Kalfakakou
./. - c.-67C>T r.(=) p.(=) Parent #2 g.67250563C>T - AIP_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Serres - Greek no - 4 Despoina Kalfakakou
./. - c.-64A>G r.(=) p.(=) Parent #2 g.67250566A>G - AIP_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Sofades, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.26G>A r.(?) p.(Arg9Gln) Parent #2 g.67250655G>A - AIP_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Symi Leros Greek no - 1 Despoina Kalfakakou
./. - c.26G>A r.(?) p.(Arg9Gln) Parent #2 g.67250655G>A - AIP_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Rethimno - Greek no - 1 Despoina Kalfakakou
./. - c.26G>A r.(?) p.(Arg9Gln) Parent #2 g.67250655G>A - AIP_000021 - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Liti, Thessaloniki - Greek no - 3 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Zante Greek no - 2 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Armenia - Greek no - 3 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kefalonia Achaea Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Achaia Lasithi Greek no - 4 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinth Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 TRC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 ENC, ENDO, EnPol, OVCA - F Preveza Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 CUP, GaPol - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrainCa, TRC - F Zoodochos Pigi, Euboea Chalkida Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kollines, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 PNCA2 - F Corfu Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 PNCA2 - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa Grevena Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Rumelia Trabzon Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Preveza Mytikas, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Kyllini, Elis & Asia Minor Achaea Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 NHL, OVCA - F Amfissa - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Volos  - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Arta Greek no - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.99+9C>G r.(=) p.(=) Parent #2 g.67250737C>G - AIP_000012 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.100-18C>T r.(=) p.(=) Parent #2 g.67254459C>T - AIP_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Crete Greek no - 1 Despoina Kalfakakou
./. - c.100-18C>T r.(=) p.(=) Parent #2 g.67254459C>T - AIP_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.100-6C>A r.(=) p.(=) Parent #2 g.67254471C>A - AIP_000019 - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F Plagia, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.100-6C>A r.(=) p.(=) Parent #2 g.67254471C>A - AIP_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.145G>T r.(?) p.(Val49Leu) Parent #2 g.67254522G>T - AIP_000008 rs1063385 - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.280-37C>T r.(=) p.(=) Parent #2 g.67256701C>T - AIP_000029 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.285G>A r.(=) p.(=) Parent #2 g.67256743G>A - AIP_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Samos Greek no - 1 Despoina Kalfakakou
./. - c.285G>A r.(=) p.(=) Parent #2 g.67256743G>A - AIP_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Panopoulos, Antroni, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.439C>G r.(?) p.(Pro147Ala) Parent #2 g.67256897C>G - AIP_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Florina Kozani Greek no - 2 Despoina Kalfakakou
./. - c.468+16G>A r.(=) p.(=) Parent #2 g.67256942G>A - AIP_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.468+16G>A r.(=) p.(=) Parent #2 g.67256942G>A - AIP_000024 - - - - DNA SEQ-NG-I 1 ADNM, AML, HypPT, RCC, TRC - M Triantafyllia, Serres Pontus Greek no - 1 Despoina Kalfakakou
./. - c.468+16G>A r.(=) p.(=) Parent #2 g.67256942G>A - AIP_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.468+27C>G r.(=) p.(=) Parent #2 g.67256953C>G - AIP_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.468+27C>G r.(=) p.(=) Parent #2 g.67256953C>G - AIP_000022 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.469-51C>T r.(=) p.(=) Parent #2 g.67257458C>T - AIP_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Kranidi, Argolis Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.469-50G>A r.(=) p.(=) Parent #2 g.67257459G>A - AIP_000002 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.469-37C>A r.(=) p.(=) Parent #2 g.67257472C>A - AIP_000013 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Santorini Scheveningen, Netherlands Greek no - 1 Despoina Kalfakakou
./. - c.469-34C>T r.(=) p.(=) Parent #2 g.67257475C>T - AIP_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.469-33G>A r.(=) p.(=) Parent #2 g.67257476G>A - AIP_000032 - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
./. - c.573C>T r.(=) p.(=) Parent #2 g.67257613C>T - AIP_000033 - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.645+33G>A r.(=) p.(=) Parent #2 g.67257718G>A - AIP_000028 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.645+33G>A r.(=) p.(=) Parent #2 g.67257718G>A - AIP_000028 - - - - DNA SEQ-NG-I 1 OVCA - F Korçë, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.645+37G>C r.(=) p.(=) Parent #2 g.67257722G>C - AIP_000027 - - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M Asia Minor Didymoteicho Greek no - 4 Despoina Kalfakakou
./. - c.646-43C>G r.(=) p.(=) Parent #2 g.67257744C>G - AIP_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.646-24C>T r.(=) p.(=) Parent #2 g.67257763C>T - AIP_000031 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.788-30_788-29insTGCCCAC r.(=) p.(=) Parent #2 g.67258229_67258230insTGCCCAC - AIP_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.788-30_788-29insTGCCCAC r.(=) p.(=) Parent #2 g.67258229_67258230insTGCCCAC - AIP_000030 - - - - DNA SEQ-NG-I 1 OVCA - F Methana Rodia, Grevena Greek no - 1 Despoina Kalfakakou
./. - c.788-21G>A r.(=) p.(=) Parent #2 g.67258238G>A - AIP_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia Zacharo, Elis Greek no - 1 Despoina Kalfakakou
./. - c.792C>T r.(=) p.(=) Parent #2 g.67258263C>T - AIP_000016 - - - - DNA SEQ-NG-I 1 CRC - F Euboea Crete Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Athens Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Ancient Epidavros - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Kastri, Thesprotia - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Mandra, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Mazaraki, Achaia Greek no - 4 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Athens / Salamis Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 ENC, EnPol, OVCA - F Argolida Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Pieria - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Metomorfosi, Messinia Maniaki, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.67258278C>T - AIP_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.831C>T r.(=) p.(=) Parent #2 g.67258302C>T - AIP_000025 - - - - DNA SEQ-NG-I 1 ColPol, PNCA2 - F Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.857C>A r.(?) p.(Ala286Asp) Parent #2 g.67258328C>A - AIP_000026 - - - - DNA SEQ-NG-I 1 Pheo - M Syria - Syrian no - 1 Despoina Kalfakakou
./. - c.974G>A r.(?) p.(Arg325Gln) Parent #2 g.67258445G>A - AIP_000014 - - - - DNA SEQ-NG-I 1 CRC - M Athens Drama Greek no - 1 Despoina Kalfakakou
./. - c.978G>A r.(=) p.(=) Parent #2 g.67258449G>A - AIP_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Lesvos - Greek no - 3 Despoina Kalfakakou
./. - c.978G>A r.(=) p.(=) Parent #2 g.67258449G>A - AIP_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Kamares, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.*114G>C r.(=) p.(=) Parent #2 g.67258578G>C - AIP_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Boeotia Greek no - 1 Despoina Kalfakakou
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