Full data view for gene AIP

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

43 entries on 1 page. Showing entries 1 - 43.
Legend  

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.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 VolosĀ  - 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.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kastania, Karditsa Athens 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 Tourkolekas, Arcadia - 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 Patras Pyrgos, Elis - - - 1 Despoina Kalfakakou
./. - c.47G>A r.(?) p.(Arg16His) Parent #2 g.67250676G>A - AIP_000009 - - - - - - - DNA SEQ-NG-I 1 ColPol - F Rethimno, Crete Trabzon, Pontus - - - 1 Despoina Kalfakakou
Legend