Full data view for gene TSC2

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

5 entries on 1 page. Showing entries 1 - 5.
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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.272C>T r.(?) p.(Pro91Leu) Parent #2 g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CHL - F Erythres, Attica Region - Greek no - 1 Despoina Kalfakakou
-/- - c.272C>T r.(?) p.(Pro91Leu) Parent #2 g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Larisa East Thrace Greek no - 1 Despoina Kalfakakou
-/- - c.272C>T r.(?) p.(Pro91Leu) Parent #2 g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Evrytania Greek no - 1 Despoina Kalfakakou
-/- - c.272C>T r.(?) p.(Pro91Leu) Parent #2 g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Austria Greek no - 1 Despoina Kalfakakou
-/- - c.272C>T r.(?) p.(Pro91Leu) Parent #2 g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F Plagia, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
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