Full data view for gene TSC2

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

29 entries on 1 page. Showing entries 1 - 29.
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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     

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Panel size     

Owner     
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argolis Achaia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Messinia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aridaia, Pella Liksouri, Kefalonia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Tripoli - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Zacharo, Elis - Greek no - 2 Despoina Kalfakakou
-?/-? - c.3815-15G>A - - Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Neos Marmaras, Halkidiki Serres Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese Izmir Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Stamata, Attica - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argos Orestiko Kalo Nero, Larisa Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Romania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 CRC, HNSCC, PrCa, TRC - M Kefalonia - Greek no - 2 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 CMM3 - M Albania - Albanian no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 - - F Armenia Komotini Armenian-Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 FANCA - F Al Bara, Syria - Syrian no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ukraine - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mikri Milia, Pieria - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Neo Monastiri, Domokos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Rethimno Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Tyrnavos - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3815-15G>A r.(=) p.(=) Parent #2 g.2132422G>A - TSC2_000026 rs45480591 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Giannitsa Thessaloniki - - - 1 Despoina Kalfakakou
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