Full data view for gene MEN1

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

83 entries on 1 page. Showing entries 1 - 83.
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.-22C>A r.(=) p.(=) Parent #2 g.64577603G>T - MEN1_000031 - - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
./. - c.-13A>C r.(=) p.(=) Parent #2 g.64577594T>G - MEN1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.-13A>C r.(=) p.(=) Parent #2 g.64577594T>G - MEN1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Dara, Arcadia Ithaca Greek no - 1 Despoina Kalfakakou
./. - c.-13A>C r.(=) p.(=) Parent #2 g.64577594T>G - MEN1_000017 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-13A>C r.(=) p.(=) Parent #2 g.64577594T>G - MEN1_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Filiates, Thesprotia Kanalaki, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.-10G>A r.(=) p.(=) Parent #2 g.64577591C>T - MEN1_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Elatos, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.-10G>C r.(=) p.(=) Parent #2 g.64577591C>G - MEN1_000013 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Episkopi, Rethymno Volos Greek no - 1 Despoina Kalfakakou
./. - c.-6G>A r.(=) p.(=) Parent #2 g.64577587C>T - MEN1_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Aliartos, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.30G>T r.(=) p.(=) Parent #2 g.64577552C>A - MEN1_000002 - - - - DNA SEQ-NG-I 1 PNCA2 - F Chania Mani Greek no - 3 Despoina Kalfakakou
./. - c.30G>T r.(=) p.(=) Parent #2 g.64577552C>A - MEN1_000002 - - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa - M Kamenianoi, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.329G>C r.(?) p.(Gly110Ala) Parent #2 g.64577253C>G - MEN1_000016 - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Makrychori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Sotirianika, Messenia Pigadia, Messenia Greek no - 2 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 BrCa, OvTer - F Evros Sesklo, Volos Greek no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 OVCA, RMSE2 - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.541G>T r.(?) p.(Ala181Ser) Parent #2 g.64575491C>A - MEN1_000015 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Thalames, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.578C>T r.(?) p.(Pro193Leu) Parent #2 g.64575454G>A - MEN1_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Peloponnese Izmir Greek no - 3 Despoina Kalfakakou
./. - c.578C>T r.(?) p.(Pro193Leu) Parent #2 g.64575454G>A - MEN1_000012 - - - - DNA SEQ-NG-I 1 ALL, BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.578C>T r.(?) p.(Pro193Leu) Parent #2 g.64575454G>A - MEN1_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Nafplion Kea Greek no - 1 Despoina Kalfakakou
./. - c.591G>C r.(?) p.(Gln197His) Parent #2 g.64575441C>G - MEN1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.613G>A r.(?) p.(Gly205Ser) Parent #2 g.64575419C>T - MEN1_000027 - - - - DNA SEQ-NG-I 1 DuoCa, LuCa, PNCA2, PrCa - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.696C>T r.(=) p.(=) Parent #2 g.64575126G>A - MEN1_000033 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.700C>T r.(?) p.(Arg234Cys) Parent #2 g.64575122G>A - MEN1_000011 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Armenia Greece Armenian no - 1 Despoina Kalfakakou
./. - c.726G>A r.(=) p.(=) Parent #2 g.64575096C>T - MEN1_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.755T>C r.(?) p.(Ile252Thr) Parent #2 g.64575067A>G - MEN1_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) Parent #2 g.64575045C>T - MEN1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Velesiotes, Domokos Ano Agoriani, Domokos Greek no - 3 Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) Parent #2 g.64575045C>T - MEN1_000024 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.778G>A r.(?) p.(Glu260Lys) Parent #2 g.64575044C>T - MEN1_000007 - - - - DNA SEQ-NG-I 1 PNCA2 - F Chania Mani Greek no - 3 Despoina Kalfakakou
./. - c.798+29G>A r.(=) p.(=) Parent #2 g.64574995C>T - MEN1_000014 - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Russia - Greek no - 8 Despoina Kalfakakou
./. - c.799-36G>A r.(=) p.(=) Parent #2 g.64574727C>T - MEN1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.799-36G>A r.(=) p.(=) Parent #2 g.64574727C>T - MEN1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa Nymfaio, Florina Greek no - 1 Despoina Kalfakakou
./. - c.799-36G>A r.(=) p.(=) Parent #2 g.64574727C>T - MEN1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Patra Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.799-15_799-14del r.(=) p.(=) Parent #2 g.64574705_64574706del - MEN1_000028 - - - - DNA SEQ-NG-I 1 BrainCa - M Asia Minor Archangelos, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.799-15_799-14del r.(=) p.(=) Parent #2 g.64574705_64574706del - MEN1_000028 - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul Kozani Greek no - 1 Despoina Kalfakakou
./. - c.799-10C>T r.(=) p.(=) Parent #2 g.64574701G>A - MEN1_000022 rs71526470 - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Asia Minor Oreini Nafpaktia Greek no - 1 Despoina Kalfakakou
./. - c.807C>T r.(=) p.(=) Parent #2 g.64574683G>A - MEN1_000029 - - - - DNA SEQ-NG-I 1 CUP - F Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1047G>A r.(=) p.(=) Parent #2 g.64573721C>T - MEN1_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
./. - c.1064+43C>T r.(=) p.(=) Parent #2 g.64573661G>A - MEN1_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Grevena Elassona Greek no - 1 Despoina Kalfakakou
./. - c.1064+43C>T r.(=) p.(=) Parent #2 g.64573661G>A - MEN1_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.1095C>T r.(=) p.(=) Parent #2 g.64573212G>A - MEN1_000026 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1145A>G r.(?) p.(Lys382Arg) Parent #2 g.64573162T>C - MEN1_000032 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.1192C>G r.(?) p.(Gln398Glu) Parent #2 g.64573115G>C - MEN1_000010 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1221C>A r.(=) p.(=) Parent #2 g.64572650G>T - MEN1_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1245C>T r.(=) p.(=) Parent #2 g.64572626G>A - MEN1_000035 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Koropi Romania Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Katouna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Crete Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul Thessaloniki İstanbul Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 Polyposis - M Hydra Mykonos Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 ADNM, Polyposis - F Keramidia, Ilia Daphnoula, Ilia Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 GaPol - F Grevena - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Istiaia, Evia Tsapournia, Evia Greek no - 4 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Tsapournia, Evia Greek no - 5 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Vlasios, Boeotia Davleia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - - - - - - - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - M Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 AGCa, CRC - F Volos Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 PNCA2 - M Lakkopetra, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Boeotia Athens Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Grevena - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Preveza Mytikas, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Karpenissi  - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Chelidoni, Archaia Olympia - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.1311G>A r.(=) p.(=) Parent #2 g.64572560C>T - MEN1_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Pitsineika, Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.1410C>T r.(=) p.(=) Parent #2 g.64572244G>A - MEN1_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1443G>C r.(=) p.(=) Parent #2 g.64572211C>G - MEN1_000023 - - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Lefkogeia, Drama & Cappadocia - Greek no - 1 Despoina Kalfakakou
./. - c.1493C>T r.(?) p.(Pro498Leu) Parent #2 g.64572161G>A - MEN1_000018 - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
./. - c.1556C>G r.(?) p.(Pro519Arg) Parent #2 g.64572098G>C - MEN1_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aronas, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.1841G>C r.(?) p.(Gly614Ala) Parent #2 g.64571813C>G - MEN1_000030 - - - - DNA SEQ-NG-I 1 OVCA - F Serres Thrace Greek no - 1 Despoina Kalfakakou
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