Full data view for gene TSC2

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

33 entries on 1 page. Showing entries 1 - 33.
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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.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Xanthi Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Aronas, Pieria Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Komotini Stavros, Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Florina Boeotia Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 - - M Kourtaki, Argolis - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Kefalonia Crete Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ano Alissos, Patra - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Aivali, Asia Minor Atsiki, Lemnos Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lasithi - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kalavryta Patra Greek no - 2 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ColPol - F Potidaneia, Phocis Nafpaktos Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 - - F Alexandria, Egypt Serres Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM3, LuCa, MNGM - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Acharnes - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Volos Palaiovracha, Boeotia Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Preveza - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Armenia Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Kilkis Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Orestias - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ligia, Corinthia - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia Constantinople Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kaminia, Achaea Kastritsi, Achaea Greek no - 1 Despoina Kalfakakou
-/- - c.5260-15C>T r.(=) p.(=) Parent #2 g.2138432C>T - TSC2_000002 rs45517416 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
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