Full data view for gene FANCB

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

76 entries on 1 page. Showing entries 1 - 76.
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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.-39T>C r.(=) p.(=) Parent #2 g.14883671A>G - FANCB_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.-37T>A r.(=) p.(=) Parent #2 g.14883669A>T - FANCB_000010 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.69T>C r.(=) p.(=) Parent #2 g.14883564A>G - FANCB_000024 - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - F Nafpaktos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.69T>C r.(=) p.(=) Parent #2 g.14883564A>G - FANCB_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.77A>G r.(?) p.(Gln26Arg) Parent #2 g.14883556T>C - FANCB_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Managouli, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.127T>A r.(?) p.(Leu43Ile) Parent #2 g.14883506A>T - FANCB_000012 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.330A>C r.(=) p.(=) Parent #2 g.14883303T>G - FANCB_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.330A>C r.(=) p.(=) Parent #2 g.14883303T>G - FANCB_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
./. - c.392A>G r.(?) p.(Lys131Arg) Parent #2 g.14883241T>C - FANCB_000029 - - - - DNA SEQ-NG-I 1 OVCA - F Arna, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.433A>G r.(?) p.(Arg145Gly) Parent #2 g.14883200T>C - FANCB_000006 - - - - DNA SEQ-NG-I 1 BrCa, CC - F Drama - Greek no - 1 Despoina Kalfakakou
./. - c.447A>T r.(=) p.(=) Parent #2 g.14883186T>A - FANCB_000026 - - - - DNA SEQ-NG-I 1 CMM3 - F Piraeus Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.554G>T r.(?) p.(Gly185Val) Parent #2 g.14883079C>A - FANCB_000023 - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.554G>T r.(?) p.(Gly185Val) Parent #2 g.14883079C>A - FANCB_000023 - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.584A>G r.(?) p.(Glu195Gly) Parent #2 g.14883049T>C - FANCB_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa Athens Greek no - 1 Despoina Kalfakakou
./. - c.952-38del r.(=) p.(=) Parent #2 g.14877494del - FANCB_000008 - - - - DNA SEQ-NG-I 1 BrCa, SIC - F Italy - Italian no - 1 Despoina Kalfakakou
./. - c.952-38del r.(=) p.(=) Parent #2 g.14877494del - FANCB_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
./. - c.972A>T r.(?) p.(Lys324Asn) Parent #2 g.14877436T>A - FANCB_000028 - - - - DNA SEQ-NG-I 1 BrCa - F Volos Epirus Greek no - 1 Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) Parent #2 g.14877419A>G - FANCB_000005 - - - - DNA SEQ-NG-I 1 BrCa, CHL - F Erythres, Attica Region - Greek no - 1 Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) Parent #2 g.14877419A>G - FANCB_000005 - - - - DNA SEQ-NG-I 1 ColPol - F Villia, Attica Region Elefsina Greek no - 1 Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) Parent #2 g.14877419A>G - FANCB_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Poros Rado, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.989T>C r.(?) p.(Ile330Thr) Parent #2 g.14877419A>G - FANCB_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi - Greek no - 1 Despoina Kalfakakou
./. - c.1104+34A>G r.(=) p.(=) Parent #2 g.14877270T>C - FANCB_000011 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messolonghi Krokos, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1104+35G>T r.(=) p.(=) Parent #2 g.14877269C>A - FANCB_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1104+35G>T r.(=) p.(=) Parent #2 g.14877269C>A - FANCB_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.1140T>A r.(?) p.(Phe380Leu) Parent #2 g.14876041A>T - FANCB_000017 - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Filiates, Thesprotia Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.1140T>A r.(?) p.(Phe380Leu) Parent #2 g.14876041A>T - FANCB_000017 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) Both (homozygous) g.14875963_14875965del - FANCB_000016 - - - - DNA SEQ-NG-I 1 Polyposis - M Antalya, Asia Minor Athens Greek no - 5 Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) Parent #2 g.14875963_14875965del - FANCB_000016 - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli Laurium Greek no - 1 Despoina Kalfakakou
./. - c.1197+19_1197+21del r.(=) p.(=) Parent #2 g.14875963_14875965del - FANCB_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion Kythnos Greek no - 1 Despoina Kalfakakou
./. - c.1197+41A>T r.(=) p.(=) Parent #2 g.14875943T>A - FANCB_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Ios - Greek no - 1 Despoina Kalfakakou
./. - c.1197+41A>T r.(=) p.(=) Parent #2 g.14875943T>A - FANCB_000013 - - - - DNA SEQ-NG-I 1 - - F Kos - Greek no - 1 Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) Parent #2 g.14868839G>A - FANCB_000003 - - - - DNA SEQ-NG-I 1 - - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) Parent #2 g.14868839G>A - FANCB_000003 - - - - DNA SEQ-NG-I 1 ColPol - F Arcadia Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.1327-43C>T r.(=) p.(=) Parent #2 g.14868839G>A - FANCB_000003 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Lesbos Crete Greek no - 1 Despoina Kalfakakou
./. - c.1505A>G r.(?) p.(Asn502Ser) Parent #2 g.14863400T>C - FANCB_000025 - - - - DNA SEQ-NG-I 1 Pheo - F Asia Minor Pontus Greek no - 1 Despoina Kalfakakou
./. - c.1743A>G r.(=) p.(=) Parent #2 g.14863162T>C - FANCB_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 OVCA - F ─░stanbul - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Both (homozygous) g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 CRC - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Andros Athens Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Galaxidi, Phocis Trizonia, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkida Nea Artaki, Evia Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Paiania Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Gjirokaster Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 - - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Both (homozygous) g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 PNCA2 - F Smyrna, Asia Minor Thiva Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Amyntaio - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Pili, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.1769T>C r.(?) p.(Phe590Ser) Parent #2 g.14863136A>G - FANCB_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Kyparissia Greek no - 1 Despoina Kalfakakou
./. - c.1817G>A r.(?) p.(Ser606Asn) Parent #2 g.14863088C>T - FANCB_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.1817G>A r.(?) p.(Ser606Asn) Parent #2 g.14863088C>T - FANCB_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Kamares, Aigaleia Skala, Nafpaktia Greek no - 3 Despoina Kalfakakou
./. - c.1928-19C>T r.(=) p.(=) Parent #2 g.14862881G>A - FANCB_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) Parent #2 g.14861834T>C - FANCB_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Kozani Giannitsa Greek no - 1 Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) Parent #2 g.14861834T>C - FANCB_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) Parent #2 g.14861834T>C - FANCB_000022 - - - - DNA SEQ-NG-I 1 - - F Ilia Amarynthos, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.2435A>G r.(?) p.(Tyr812Cys) Both (homozygous) g.14861834T>C - FANCB_000022 - - - - DNA SEQ-NG-I 1 PNCA2 - M Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Parent #2 g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Livadeia Honduras Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Parent #2 g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Both (homozygous) g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Mytikas, Etolia-Akarnania Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Parent #2 g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Thrace Kythira Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Parent #2 g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
./. - c.2452A>G r.(?) p.(Arg818Gly) Parent #2 g.14861817T>C - FANCB_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Paros / Tinos Paros / Tinos Greek no - 1 Despoina Kalfakakou
./. - c.2477C>T r.(?) p.(Thr826Met) Parent #2 g.14861792G>A - FANCB_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
./. - c.2539T>C r.(=) p.(=) Parent #2 g.14861730A>G - FANCB_000018 - - - - DNA SEQ-NG-I 1 GIST - F Ierapetra, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa, LPSRCM - F Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Archontiki, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Volos Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 SIPol - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 RCC, TRC - F Karditsa Latisa Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Olympia Greek no - 4 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.*33T>C r.(=) p.(=) Parent #2 g.14861656A>G - FANCB_000001 - - - - DNA SEQ-NG-I 1 BrCa, CHLC - F Elis Zante Greek no - 1 Despoina Kalfakakou
Legend