Full data view for gene VHL

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

45 entries on 1 page. Showing entries 1 - 45.
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.-36C>G r.(=) p.(=) Parent #2 g.10183496C>G - VHL_000019 - - - - DNA SEQ-NG-I 1 CMM3, ENC - F Eleusis - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 - - F Elassona, Larisa - Greek no - 2 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Kos - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 3 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Skopelos - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Gjirokaster Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 - - F Stavros, Lamia Lamia Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Italy - Italian no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Patra Livadeia Greek no - 1 Despoina Kalfakakou
./. - c.74C>T r.(?) p.(Pro25Leu) Parent #2 g.10183605C>T - VHL_000001 rs35460768 - - - DNA SEQ-NG-I 1 BrCa - F Lechaina, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.104C>A r.(?) p.(Ala35Asp) Parent #2 g.10183635C>A - VHL_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.114C>T r.(=) p.(=) Parent #2 g.10183645C>T - VHL_000013 rs417164 - - - DNA SEQ-NG-I 1 Healthy/Control - F Drama Elis Greek no - 1 Despoina Kalfakakou
./. - c.181C>G r.(?) p.(Pro61Ala) Parent #2 g.10183712C>G - VHL_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Katouna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.181C>G r.(?) p.(Pro61Ala) Parent #2 g.10183712C>G - VHL_000003 - - - - DNA SEQ-NG-I 1 PNCA2 - M Meramvellou, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 BrCa - F Poros - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa Nymfaio, Florina Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 CMM3, PNCA2, TRC - M Andronianos, Euboea Dendra, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 OVCA - F Northern Epirus Karkinagri, Icaria Greek no - 1 Despoina Kalfakakou
./. - c.183C>G r.(=) p.(=) Parent #2 g.10183714C>G - VHL_000004 rs63650860 - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.258C>G r.(=) p.(=) Parent #2 g.10183789C>G - VHL_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.258C>G r.(=) p.(=) Parent #2 g.10183789C>G - VHL_000005 - - - - DNA SEQ-NG-I 1 - - F Ilia Amarynthos, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.297A>C r.(=) p.(=) Parent #2 g.10183828A>C - VHL_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.340+24G>A r.(=) p.(=) Parent #2 g.10183895G>A - VHL_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Ermioni Greek no - 1 Despoina Kalfakakou
./. - c.341-15T>C r.(=) p.(=) Parent #2 g.10188183T>C - VHL_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Rethymno Perama, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.341-5G>A r.spl? p.? Parent #2 g.10188193G>A - VHL_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Germany Ierapetra Greek no - 1 Despoina Kalfakakou
./. - c.345C>T r.(=) p.(=) Parent #2 g.10188202C>T - VHL_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.345C>T r.(=) p.(=) Parent #2 g.10188202C>T - VHL_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
./. - c.373C>T r.(?) p.(His125Tyr) Parent #2 g.10188230C>T - VHL_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.375C>T r.(=) p.(=) Parent #2 g.10188232C>T - VHL_000018 - - - - DNA SEQ-NG-I 1 TRC - F Monacho - German no - 1 Despoina Kalfakakou
./. - c.463+8C>T r.(=) p.(=) Parent #2 g.10188328C>T - VHL_000008 rs5030834 - - - DNA SEQ-NG-I 1 OVCA - F Greeks of Australia - Greek no - 1 Despoina Kalfakakou
./. - c.552C>T r.(=) p.(=) Parent #2 g.10191559C>T - VHL_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Amaliada - Greek no - 1 Despoina Kalfakakou
./. - c.575C>G r.(?) p.(Pro192Arg) Parent #2 g.10191582C>G - VHL_000020 - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
./. - c.588A>G r.(=) p.(=) Parent #2 g.10191595A>G - VHL_000021 - - - - DNA SEQ-NG-I 1 BBT, PGL2 - F Gytheio, Laconia Chosiario, Laconia Greek no - 5 Despoina Kalfakakou
./. - c.628C>T r.(?) p.(Arg210Trp) Parent #2 g.10191635C>T - VHL_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
./. - c.629G>A r.(?) p.(Arg210Gln) Parent #2 g.10191636G>A - VHL_000010 - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 1 Despoina Kalfakakou
./. - c.631A>C r.(?) p.(Met211Leu) Parent #2 g.10191638A>C - VHL_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Chios Corfu Greek no - 1 Despoina Kalfakakou
./. - c.*22C>G r.(=) p.(=) Parent #2 g.10191671C>G - VHL_000017 - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
./. - c.*47A>G r.(=) p.(=) Parent #2 g.10191696A>G - VHL_000002 - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kavala Eleftheroupoli Greek no - 1 Despoina Kalfakakou
Legend