Full data view for gene CYLD

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

93 entries on 1 page. Showing entries 1 - 93.
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.59T>G r.(?) p.(Ile20Ser) Parent #2 g.50783668T>G - CYLD_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
./. - c.277A>G r.(?) p.(Asn93Asp) Parent #2 g.50783886A>G - CYLD_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.277A>G r.(?) p.(Asn93Asp) Parent #2 g.50783886A>G - CYLD_000023 - - - - DNA SEQ-NG-I 1 PNCA2 - M Karpathos - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.50784110G>A - CYLD_000018 - - - - DNA SEQ-NG-I 1 Polyposis - F Chryso, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.504+29_504+32del r.(=) p.(=) Parent #2 g.50784142_50784145del - CYLD_000005 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.504+31T>A r.(=) p.(=) Parent #2 g.50784144T>A - CYLD_000035 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.504+31T>A r.(=) p.(=) Parent #2 g.50784144T>A - CYLD_000035 - - - - DNA SEQ-NG-I 1 OVCA - F Patmos - Greek no - 1 Despoina Kalfakakou
./. - c.504+31T>A r.(=) p.(=) Parent #2 g.50784144T>A - CYLD_000035 - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Greek Bulgaria Bulgarian no - 1 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 4 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Salamina Cypriot no - 3 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Orestias - Greek no - 1 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Morfi, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.504+46G>A r.(=) p.(=) Parent #2 g.50784159G>A - CYLD_000012 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Morfi, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.505-32T>A r.(=) p.(=) Parent #2 g.50785483T>A - CYLD_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Elis Achaea Greek no - 1 Despoina Kalfakakou
./. - c.505-32T>A r.(=) p.(=) Parent #2 g.50785483T>A - CYLD_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.538G>T r.(?) p.(Val180Leu) Parent #2 g.50785548G>T - CYLD_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.633A>G r.(=) p.(=) Parent #2 g.50785643A>G - CYLD_000030 - - - - DNA SEQ-NG-I 1 PrCa - M Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.913+7T>C r.(=) p.(=) Parent #2 g.50788342T>C - CYLD_000028 - - - - DNA SEQ-NG-I 1 - - M Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.914-997T>C r.(=) p.(=) Parent #2 g.50809093T>C - CYLD_000029 - - - - DNA SEQ-NG-I 1 - - F UK - Greek no - 1 Despoina Kalfakakou
./. - c.914-989G>A r.(=) p.(=) Parent #2 g.50809101G>A - CYLD_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aigio - Greek no - 1 Despoina Kalfakakou
./. - c.914-989G>A r.(=) p.(=) Parent #2 g.50809101G>A - CYLD_000010 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Dafnes,Aegion Paraskevi, Aegion Greek no - 1 Despoina Kalfakakou
./. - c.924G>T r.(=) p.(=) Parent #2 g.50810100G>T - CYLD_000006 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1094A>G r.(?) p.(Gln365Arg) Parent #2 g.50811817A>G - CYLD_000034 - - - - DNA SEQ-NG-I 1 BrCa - F Metsovo Chios Greek no - 1 Despoina Kalfakakou
./. - c.1130-31T>G r.(=) p.(=) Parent #2 g.50813545T>G - CYLD_000015 - - - - DNA SEQ-NG-I 1 CRC - M Athens Drama Greek no - 1 Despoina Kalfakakou
./. - c.1130-28A>G r.(=) p.(=) Parent #2 g.50813548A>G - CYLD_000032 - - - - DNA SEQ-NG-I 1 BrCa - F Chloi, Magnesia Velestino Greek no - 4 Despoina Kalfakakou
./. - c.1180C>T r.(?) p.(Arg394Cys) Parent #2 g.50813626C>T - CYLD_000037 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1473A>G r.(=) p.(=) Parent #2 g.50813919A>G - CYLD_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Xylagani, Rodhope - Greek no - 1 Despoina Kalfakakou
./. - c.1509+42G>T r.(=) p.(=) Parent #2 g.50813997G>T - CYLD_000024 rs17222902 - - - DNA SEQ-NG-I 1 BrCa - F Corfu Karystos Greek no - 1 Despoina Kalfakakou
./. - c.1533G>A r.(=) p.(=) Parent #2 g.50815180G>A - CYLD_000033 - - - - DNA SEQ-NG-I 1 BrCa - F Erythres, Attica Region Region Patra Greek no - 1 Despoina Kalfakakou
./. - c.1675+14T>C r.(=) p.(=) Parent #2 g.50815336T>C - CYLD_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Paros / Tinos Paros / Tinos Greek no - 1 Despoina Kalfakakou
./. - c.1676-17T>A r.(=) p.(=) Parent #2 g.50816219T>A - CYLD_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Myrina, Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.1676-17T>A r.(=) p.(=) Parent #2 g.50816219T>A - CYLD_000016 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Mytilene Sparti Greek no - 1 Despoina Kalfakakou
./. - c.1676-11A>C r.(=) p.(=) Parent #2 g.50816225A>C - CYLD_000025 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1817+45C>A r.(=) p.(=) Parent #2 g.50816422C>A - CYLD_000036 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Petros Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.1941-36A>G r.(=) p.(=) Parent #2 g.50820730A>G - CYLD_000040 - - - - DNA SEQ-NG-I 1 OVCA - F Sitomena, AetoliaAcarnania - Greek no - 1 Despoina Kalfakakou
./. - c.2032+23G>A r.(=) p.(=) Parent #2 g.50820880G>A - CYLD_000039 - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Orestias - Greek no - 1 Despoina Kalfakakou
./. - c.2099+27T>C r.(=) p.(=) Parent #2 g.50821790T>C - CYLD_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2099+27T>C r.(=) p.(=) Parent #2 g.50821790T>C - CYLD_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Asia Minor & Euboea Greek no - 1 Despoina Kalfakakou
./. - c.2099+51T>C r.(=) p.(=) Parent #2 g.50821814T>C - CYLD_000041 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 - - F Proti, Serres Agiasos, Lesbos Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 CAL, NF - F Uzbekistan Georgia Greek no - 2 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 PGL2 - F Agrinia, Kefalinia - Greek no - 1 Despoina Kalfakakou
./. - c.2100-29T>C r.(=) p.(=) Parent #2 g.50825440T>C - CYLD_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.2238A>G r.(=) p.(=) Parent #2 g.50826513A>G - CYLD_000031 - - - - DNA SEQ-NG-I 1 PGL2, Pheo - M Ariada, Etolia-Akarnania - Greek no - 1 Despoina Kalfakakou
./. - c.2275G>T r.(?) p.(Asp759Tyr) Parent #2 g.50826550G>T - CYLD_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
./. - c.2341+50C>A r.(=) p.(=) Parent #2 g.50826666C>A - CYLD_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Raches, Gortynia Athens Greek no - 1 Despoina Kalfakakou
./. - c.2342-40T>A r.(=) p.(=) Parent #2 g.50827417T>A - CYLD_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Xanthi Ioannina Greek no - 3 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Evia Greek no - 1 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Managouli, Phocis - Greek no - 1 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Plagia, Vonitsa, Aetolia-Acarnania - Greek no - 5 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 PNCA2 - M Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.2460+37G>T r.(=) p.(=) Parent #2 g.50827612G>T - CYLD_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Vourgareli, Arta Athamanio, Arta Greek no - 1 Despoina Kalfakakou
./. - c.2461-51C>T r.(=) p.(=) Parent #2 g.50828072C>T - CYLD_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Portugal Greece Greek no - 1 Despoina Kalfakakou
./. - c.2461-51C>T r.(=) p.(=) Parent #2 g.50828072C>T - CYLD_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Kyllini, Elis & Asia Minor Achaea Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Athens Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trichonida, Aetolia-Acarnania Kremmydia, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Livadeia Honduras Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Epirus Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Elis Kalamata Greek no - 6 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Polyposis - F Rethimno, Crete Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Polyposis - M Skafidia, Ilia Nea Manolada, Ilia Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 ALL, GC, SkCa - M Russia Kissamos, Chania Greek no - 4 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Russia Pyrgos, Elis Greek no - 2 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Both (homozygous) g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Alexandroupoli - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Villia, Attica Region - Greek no - 3 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato Chania Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Milos - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 ENC, EnPol, OVCA - F Argolida Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Cassandra, Halkidiki Marathousa, Halkidiki Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 6 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Lasithi Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Greeks of Russia - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Aidona, Kalampaka Farkadona, Trikala Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Amfilochia - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.2461-35C>T r.(=) p.(=) Parent #2 g.50828088C>T - CYLD_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos Volos Greek no - 1 Despoina Kalfakakou
./. - c.2678-39C>A r.(=) p.(=) Parent #2 g.50830196C>A - CYLD_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Katerini - Greek no - 1 Despoina Kalfakakou
./. - c.2709C>T r.(=) p.(=) Parent #2 g.50830266C>T - CYLD_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Zacharo, Elis - Greek no - 2 Despoina Kalfakakou
./. - c.2709C>T r.(=) p.(=) Parent #2 g.50830266C>T - CYLD_000009 - - - - DNA SEQ-NG-I 1 PNCA2 - F Corfu Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.2859A>G r.(=) p.(=) Parent #2 g.50830416A>G - CYLD_000021 - - - - DNA SEQ-NG-I 1 - - F Eleftheriani, Nafpaktia Karlovasi, Samos Greek no - 1 Despoina Kalfakakou
./. - c.*47G>A r.(=) p.(=) Parent #2 g.50830466G>A - CYLD_000014 - - - - DNA SEQ-NG-I 1 CRC - F Kalavryta - Greek no - 5 Despoina Kalfakakou
./. - c.*52A>G r.(=) p.(=) Parent #2 g.50830471A>G - CYLD_000038 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
Legend