Full data view for gene TSC2

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

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Raches, Gortynia Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Mandra Kefalonia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa, PrCa, SIC, SkCa - M Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Dimini, Volos Volos Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - F Rethimno, Crete Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Aigio - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pandrosos, Rodhope Sappes, Rodhope Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Athens / Salamis Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Marathea, Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 PGL2 - F Agrinia, Kefalinia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - F Smyrna, Asia Minor Thiva Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nafplion Kea Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Amfilochia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Elis Metochi, Achaea Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vourgareli, Arta Athamanio, Arta Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Myticas, Aetolia-Acarnania Meganisi, Lefkas Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thesprotia Corfu Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Omvriaki, Domocos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.5383C>T r.(?) p.(Arg1795Cys) Parent #2 g.2138570C>T - TSC2_000005 rs45517423 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 2 Despoina Kalfakakou
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