Full data view for gene PRF1

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

37 entries on 1 page. Showing entries 1 - 37.
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.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia Chania Greek no - 4 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 Polyposis - M Hydra Mykonos Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Nafplio - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 - - M Kourtaki, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Thiva Athens Greek no - 2 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 AML, BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 GC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa, ENC, NF, TRC - F Ios Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 GC, PNCA2 - M Koropi - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Laurium Direvmata Euboea Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia Patra Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Lasithi Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA, SkCa - F Rethimno Kyparissia, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Kyriaki, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Karidi, Lasithi - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zaros, Heraklion Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Yalta, Russia Giresun Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Kiato, Corinthia - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 OVCA - F Paros - Greek no - 1 Despoina Kalfakakou
./. - c.755A>G r.(?) p.(Asn252Ser) Parent #2 g.72358722T>C - PRF1_000014 rs28933375 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
Legend