Full data view for gene APC

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

355 entries on 4 pages. Showing entries 1 - 100.
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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.166-11421A>G r.(=) p.(=) Parent #2 g.112090602A>G - APC_000063 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.166-48T>C r.(=) p.(=) Parent #2 g.112101975T>C - APC_000056 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Symi Kos Greek no - 3 Despoina Kalfakakou
./. - c.166-18T>C r.(=) p.(=) Parent #2 g.112102005T>C - APC_000066 - - - - DNA SEQ-NG-I 1 BrCa - F Italy Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.213T>C r.(=) p.(=) Parent #2 g.112102070T>C - APC_000090 - - - - DNA SEQ-NG-I 1 NDL - F Megalochori, Lesvos Africa-UK-Sweden Greek no - 1 Despoina Kalfakakou
./. - c.227T>C r.(?) p.(Ile76Thr) Parent #2 g.112102084T>C - APC_000067 - - - - DNA SEQ-NG-I 1 BrCa - F Naxos - Greek no - 1 Despoina Kalfakakou
./. - c.227T>C r.(?) p.(Ile76Thr) Parent #2 g.112102084T>C - APC_000067 - - - - DNA SEQ-NG-I 1 OVCA - F Ermoupoli, Syros - Greek no - 1 Despoina Kalfakakou
./. - c.250+47G>A r.(=) p.(=) Parent #2 g.112102154G>A - APC_000051 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Kefalonia Achaea Greek no - 1 Despoina Kalfakakou
./. - c.251-29G>C r.(=) p.(=) Parent #2 g.112102857G>C - APC_000048 - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Prousa, Asia Minor Siros Greek no - 1 Despoina Kalfakakou
./. - c.251-29G>C r.(=) p.(=) Parent #2 g.112102857G>C - APC_000048 - - - - DNA SEQ-NG-I 1 OVCA - F Elis - Greek no - 1 Despoina Kalfakakou
./. - c.251-29G>C r.(=) p.(=) Parent #2 g.112102857G>C - APC_000048 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Sitia Greek no - 1 Despoina Kalfakakou
./. - c.251-27A>C r.(=) p.(=) Parent #2 g.112102859A>C - APC_000046 - - - - DNA SEQ-NG-I 1 Polyposis - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.251-27A>C r.(=) p.(=) Parent #2 g.112102859A>C - APC_000046 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Kymi Greek no - 1 Despoina Kalfakakou
./. - c.307C>G r.(?) p.(Leu103Val) Parent #2 g.112102942C>G - APC_000080 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.337G>C r.(?) p.(Val113Leu) Parent #2 g.112102972G>C - APC_000029 - - - - DNA SEQ-NG-I 1 OVCA - F Lamia - Greek no - 4 Despoina Kalfakakou
./. - c.337G>C r.(?) p.(Val113Leu) Parent #2 g.112102972G>C - APC_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.452+4A>G r.spl? p.? Parent #2 g.112103091A>G - APC_000073 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.452+37A>C r.(=) p.(=) Parent #2 g.112103124A>C - APC_000087 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.453-17T>A r.(=) p.(=) Parent #2 g.112111309T>A - APC_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Zacharo, Elis - Greek no - 2 Despoina Kalfakakou
./. - c.453-17T>A r.(=) p.(=) Parent #2 g.112111309T>A - APC_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kythira Greek no - 1 Despoina Kalfakakou
./. - c.453-17T>A r.(=) p.(=) Parent #2 g.112111309T>A - APC_000030 - - - - DNA SEQ-NG-I 1 BrCa, ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.453-17T>A r.(=) p.(=) Parent #2 g.112111309T>A - APC_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Zarko, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.453-17T>A r.(=) p.(=) Parent #2 g.112111309T>A - APC_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Levidi, Arcadia Asea, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.561+45G>A r.(=) p.(=) Parent #2 g.112111479G>A - APC_000107 - - - - DNA SEQ-NG-I 1 OVCA - F Phocis Athens Greek no - 1 Despoina Kalfakakou
./. - c.562-37C>T r.(=) p.(=) Parent #2 g.112116450C>T - APC_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.562-30T>C r.(=) p.(=) Parent #2 g.112116457T>C - APC_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
./. - c.562-19_562-17del r.(=) p.(=) Parent #2 g.112116468_112116470del - APC_000089 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.667C>T r.(?) p.(Arg223*) Parent #2 g.112116592C>T - APC_000052 - - - - DNA SEQ-NG-I 1 Polyposis - M Nisaki, Corfu Potamos, Corfu Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Grevena Elassona Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Larisa East Thrace Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Austria - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Aigio Zante Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 2 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Xanthi Kavala Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Phocis Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Volos Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BKT - F Smyrna Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 CRC, PNCA2 - M Psachna, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 GLM3 - M Filiates, Thesprotia - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.676-8774A>G r.(=) p.(=) Parent #2 g.112128202A>G - APC_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.676-8729G>C r.(=) p.(=) Parent #2 g.112128247G>C - APC_000104 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.676-22G>C r.(=) p.(=) Parent #2 g.112136954G>C - APC_000068 - - - - DNA SEQ-NG-I 1 BrCa - F Italy Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.676-22G>C r.(=) p.(=) Parent #2 g.112136954G>C - APC_000068 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Fragkata, Cephalonia - Greek no - 1 Despoina Kalfakakou
./. - c.676-22G>C r.(=) p.(=) Parent #2 g.112136954G>C - APC_000068 - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Elis Metochi, Achaea Greek no - 1 Despoina Kalfakakou
./. - c.676-22G>C r.(=) p.(=) Parent #2 g.112136954G>C - APC_000068 - - - - DNA SEQ-NG-I 1 OVCA - F Eleochori, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.702C>T r.(=) p.(=) Parent #2 g.112137002C>T - APC_000108 - - - - DNA SEQ-NG-I 1 OVCA - F Kranidi, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.705C>G r.(=) p.(=) Parent #2 g.112137005C>G - APC_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala Serres Greek no - 1 Despoina Kalfakakou
./. - c.721C>T r.(?) p.(Arg241Trp) Parent #2 g.112137021C>T - APC_000121 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.780+5A>G r.spl? p.? Parent #2 g.112137085A>G - APC_000095 - - - - DNA SEQ-NG-I 1 BrainCa - M Asia Minor Archangelos, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.879+19C>T r.(=) p.(=) Parent #2 g.112151309C>T - APC_000096 - - - - DNA SEQ-NG-I 1 LuCa, RCC, TRC - M Paramythia, Thesprotia Magoula, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Liksouri Liti, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Imathia Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Greece Scandinavia Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Tbilisi, Georgia - Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Constantinople - Greek no - 4 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinth Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Sofades, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Germany - German no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 ColPol, HMGM, MNGM, NF, TRC - F Arnissa, Edessa Serres Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 CMM3 - F Athens - Greek no - 2 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Edessa Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.879+30A>G r.(=) p.(=) Parent #2 g.112151320A>G - APC_000022 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1186C>T r.(?) p.(Arg396Cys) Parent #2 g.112154969C>T - APC_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Zacharo, Elis Kotylion, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.1354+8A>G r.(=) p.(=) Parent #2 g.112157696A>G - APC_000062 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 BrCa - F Pontus Samos Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 BrCa - F Epirus Evia Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 BrCa - F Naxos - Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 BrCa - F Gergeri, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1355-26T>G r.(=) p.(=) Parent #2 g.112162779T>G - APC_000024 rs9282598 - - - DNA SEQ-NG-I 1 OVCA - F Ermoupoli, Syros - Greek no - 1 Despoina Kalfakakou
./. - c.1494+17T>C r.(=) p.(=) Parent #2 g.112162961T>C - APC_000116 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Theriso, Chania Greek no - 1 Despoina Kalfakakou
./. - c.1535T>C r.(?) p.(Val512Ala) Parent #2 g.112163666T>C - APC_000083 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1565_1566insAA r.(?) p.(Gln523Asnfs*9) Parent #2 g.112163696_112163697insAA - APC_000053 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.1778G>C r.(?) p.(Gly593Ala) Parent #2 g.112170736G>C - APC_000074 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.1780G>A r.(?) p.(Ala594Thr) Parent #2 g.112170738G>A - APC_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Crete - Greek no - 2 Despoina Kalfakakou
./. - c.1809T>C r.(=) p.(=) Parent #2 g.112170767T>C - APC_000106 rs72541808 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1809T>C r.(=) p.(=) Parent #2 g.112170767T>C - APC_000106 rs72541808 - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 2 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Aetolia-Acarnania Epirus Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Askri, Boeotia Amarynthos, Evia Greek no - 3 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Athens Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 Healthy/Control - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 Healthy/Control - F Metsovo Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa, SkCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 ColPol, CRC, GaPol - M Pyrgos, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1905G>A r.(=) p.(=) Parent #2 g.112173250G>A - APC_000010 rs72541809 - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
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