Full data view for gene NF2

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

87 entries on 1 page. Showing entries 1 - 87.
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Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

Reference     

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dbSNP ID     

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+/+ - c.(?) r.(?) p.(?) Unknown g.(?_29999545)_(30074313_30077427)del - NF2_000045 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. De novo - NF2 exons 1-14 deletion - - DNA MLPA 1 CAL, Schw - F Zakynthos Syros Greek no - 3 Despoina Kalfakakou
./. - c.115-20C>G r.(=) p.(=) Parent #2 g.30032720C>G - NF2_000024 - - - - - - - DNA SEQ-NG-I 1 ColPol - M Kalamata Sparti Greek no - 1 Despoina Kalfakakou
./. - c.241-31T>C r.(=) p.(=) Parent #2 g.30035048T>C - NF2_000025 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Nicaea - Greek no - 2 Despoina Kalfakakou
./. - c.363+22C>G r.(=) p.(=) Parent #2 g.30035223C>G - NF2_000039 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Rumelia Trabzon Greek no - 1 Despoina Kalfakakou
./. - c.363+24C>A r.(=) p.(=) Parent #2 g.30035225C>A - NF2_000012 - - - - - - - DNA SEQ-NG-I 1 CRC - M Stasimo, Messenia - Greek no - 1 Despoina Kalfakakou
./. - c.363+24C>A r.(=) p.(=) Parent #2 g.30035225C>A - NF2_000012 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Orestiada Greek no - 1 Despoina Kalfakakou
./. - c.430_431insA r.(?) p.(Tyr144*) Parent #2 g.30038257_30038258insA - NF2_000036 - - - - - - - DNA SEQ-NG-I 1 MNGM, Schw - M Volod Kastoria Greek no - 1 Despoina Kalfakakou
./. - c.432C>T r.(=) p.(=) Parent #2 g.30038259C>T - NF2_000016 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC, LuCa, NDL, Polyposis - M - - Greek no - 1 Despoina Kalfakakou
./. - c.448-27C>T r.(=) p.(=) Parent #2 g.30050619C>T - NF2_000022 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Trikeri, Volos Volos Greek no - 1 Despoina Kalfakakou
./. - c.517G>A r.(?) p.(Val173Ile) Parent #2 g.30051583G>A - NF2_000009 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotiko, Preveza Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.593G>A r.(?) p.(Arg198Gln) Parent #2 g.30051659G>A - NF2_000043 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.599+3G>A r.spl? p.? Parent #2 g.30051668G>A - NF2_000027 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
./. - c.599+41del r.(=) p.(=) Parent #2 g.30051706del - NF2_000032 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
./. - c.599+41dup r.(=) p.(=) Parent #1 g.30051706dup - NF2_000031 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
./. - c.600-50C>T r.(=) p.(=) Parent #2 g.30054128C>T - NF2_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.600-50C>T r.(=) p.(=) Parent #2 g.30054128C>T - NF2_000010 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Mytilene Sparti Greek no - 1 Despoina Kalfakakou
./. - c.600-50C>T r.(=) p.(=) Parent #2 g.30054128C>T - NF2_000010 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.613A>G r.(?) p.(Met205Val) Parent #2 g.30054191A>G - NF2_000040 - - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kavala - Greek no - 1 Despoina Kalfakakou
./. - c.676-33C>T r.(=) p.(=) Parent #2 g.30057161C>T - NF2_000026 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.676-33C>T r.(=) p.(=) Parent #2 g.30057161C>T - NF2_000026 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.810+8_810+9del r.(=) p.(=) Parent #2 g.30057336_30057337del - NF2_000013 - - - - - - - DNA SEQ-NG-I 1 CRC - M Neos Marmaras, Halkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.912T>C r.(=) p.(=) Parent #2 g.30064348T>C - NF2_000030 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.912T>C r.(=) p.(=) Parent #2 g.30064348T>C - NF2_000030 - - - - - - - DNA SEQ-NG-I 1 ENC - F Patras Konitsa Greek no - 1 Despoina Kalfakakou
./. - c.912T>C r.(=) p.(=) Parent #2 g.30064348T>C - NF2_000030 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - M Leros Pigi, Crete Greek no - 1 Despoina Kalfakakou
./. - c.912T>C r.(=) p.(=) Parent #2 g.30064348T>C - NF2_000030 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Myticas, Aetolia-Acarnania Meganisi, Lefkas Greek no - 1 Despoina Kalfakakou
./. - c.912T>C r.(=) p.(=) Parent #2 g.30064348T>C - NF2_000030 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Thesprotia Corfu Greek no - 1 Despoina Kalfakakou
./. - c.999+15G>A r.(=) p.(=) Parent #2 g.30064450G>A - NF2_000020 - - - - - - - DNA SEQ-NG-I 1 BrCa, CRC, Polyposis - F Rizomilos, Volos Rodopi, Serres Greek no - 1 Despoina Kalfakakou
./. - c.999+15G>A r.(=) p.(=) Parent #2 g.30064450G>A - NF2_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Omvriaki, Domocos - Greek no - 1 Despoina Kalfakakou
./. - c.1000-7C>G r.(=) p.(=) Parent #2 g.30067808C>G - NF2_000044 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Mesolongi - - - - 1 Despoina Kalfakakou
./. - c.1000-4G>A r.spl? p.? Parent #2 g.30067811G>A - NF2_000035 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1013G>A r.(?) p.(Arg338His) Parent #2 g.30067828G>A - NF2_000034 - - - - - - - DNA SEQ-NG-I 1 - - M - - - no - 1 Despoina Kalfakakou
./. - c.1013G>A r.(?) p.(Arg338His) Parent #2 g.30067828G>A - NF2_000034 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Andros - Greek no - 1 Despoina Kalfakakou
./. - c.1017C>T r.(=) p.(=) Parent #2 g.30067832C>T - NF2_000005 - - - - - - - DNA SEQ-NG-I 1 CRC - F - - Greek no - 3 Despoina Kalfakakou
./. - c.1113C>T r.(=) p.(=) Parent #2 g.30067928C>T - NF2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Nea Maditos, Thessaloniki Apollonia, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1113C>T r.(=) p.(=) Parent #2 g.30067928C>T - NF2_000003 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Agia Marina, Imathia - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kozani Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 Polyposis - M Chania, Crete Amfissa Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyriaki, Boeotia Chostia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Kyparissia Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 Schw - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.1206C>T r.(=) p.(=) Parent #2 g.30069341C>T - NF2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Domokos - Greek no - 1 Despoina Kalfakakou
./. - c.1257G>A r.(=) p.(=) Parent #2 g.30069392G>A - NF2_000018 - - - - - - - DNA SEQ-NG-I 1 Polyposis - F Chania, Crete Karditsa Greek no - 5 Despoina Kalfakakou
./. - c.1257G>A r.(=) p.(=) Parent #2 g.30069392G>A - NF2_000018 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Tzoumerka, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 OVCA - F  Ioannina Athens Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Kymi, Evia Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrainCa - M Asia Minor Archangelos, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontians of Russia - Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Hydra Laconia Greek no - 1 Despoina Kalfakakou
./. - c.1340+8G>T r.(=) p.(=) Parent #2 g.30069483G>T - NF2_000004 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 1 Despoina Kalfakakou
./. - c.1340+49G>A r.(=) p.(=) Parent #2 g.30069524G>A - NF2_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1341-12C>G r.(=) p.(=) Parent #2 g.30070813C>G - NF2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 1 Despoina Kalfakakou
./. - c.1387G>A r.(?) p.(Glu463Lys) Parent #2 g.30070871G>A - NF2_000011 - - - - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1392G>A r.(=) p.(=) Parent #2 g.30070876G>A - NF2_000014 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.1439C>T r.(?) p.(Thr480Met) Parent #2 g.30070923C>T - NF2_000042 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kokkino Chorio, Chania Gavalohori, Chania Greek no - 1 Despoina Kalfakakou
./. - c.1439C>T r.(?) p.(Thr480Met) Parent #2 g.30070923C>T - NF2_000042 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
./. - c.1440G>A r.(=) p.(=) Parent #2 g.30070924G>A - NF2_000021 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1440G>A r.(=) p.(=) Parent #2 g.30070924G>A - NF2_000021 - - - - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul Kozani Greek no - 1 Despoina Kalfakakou
./. - c.1446+20G>C r.(=) p.(=) Parent #2 g.30070950G>C - NF2_000017 - - - - - - - DNA SEQ-NG-I 1 Polyposis - F Chania, Crete Karditsa Greek no - 5 Despoina Kalfakakou
./. - c.1446+20G>C r.(=) p.(=) Parent #2 g.30070950G>C - NF2_000017 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1447-23A>T r.(=) p.(=) Parent #2 g.30074162A>T - NF2_000023 - - - - - - - DNA SEQ-NG-I 1 BrCa, FM-SR - F Sitia - Greek no - 1 Despoina Kalfakakou
./. - c.1482C>T r.(=) p.(=) Parent #2 g.30074220C>T - NF2_000033 - - - - - - - DNA SEQ-NG-I 1 - - F Chania, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1575-44A>G r.(=) p.(=) Parent #2 g.30077384A>G - NF2_000015 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.1575-5G>A r.spl? p.? Parent #2 g.30077423G>A - NF2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - M Milies, Elis Drepano, Achaia Greek no - 1 Despoina Kalfakakou
./. - c.1575-5G>A r.spl? p.? Parent #2 g.30077423G>A - NF2_000007 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Desfina, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.1670C>T r.(?) p.(Ala557Val) Parent #2 g.30077523C>T - NF2_000041 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor İzmir Greek no - 1 Despoina Kalfakakou
./. - c.1721A>C r.(?) p.(His574Pro) Parent #2 g.30077574A>C - NF2_000028 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Androusa, Messinia Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.1737+44A>G r.(=) p.(=) Parent #2 g.30077634A>G - NF2_000037 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1737+44A>G r.(=) p.(=) Parent #2 g.30077634A>G - NF2_000037 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1762C>T r.(?) p.(Arg588*) Parent #2 g.30090765C>T - NF2_000029 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.1762C>T r.(?) p.(Arg588*) Parent #2 g.30090765C>T - NF2_000029 - - - - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
./. - c.1762C>T r.(?) p.(Arg588*) Parent #2 g.30090765C>T - NF2_000029 - - - - - - - DNA SEQ-NG-I 1 BrCa, RCC - F Mytilene Sparta Greek no - 1 Despoina Kalfakakou
./. - c.*4G>A r.(=) p.(=) Parent #2 g.30090795G>A - NF2_000008 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Arta & Chios Agios Mattheos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.*4G>A r.(=) p.(=) Parent #2 g.30090795G>A - NF2_000008 - - - - - - - DNA SEQ-NG-I 1 PGL2 - M Piraeus Smyrna, Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.*23A>G r.(=) p.(=) Parent #2 g.30090814A>G - NF2_000019 - - - - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Filiates, Thesprotia Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.*51G>A r.(=) p.(=) Parent #2 g.30090842G>A - NF2_000038 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Croatia Greek no - 1 Despoina Kalfakakou
./. - c.*51G>A r.(=) p.(=) Parent #2 g.30090842G>A - NF2_000038 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
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