All transcript variants in gene TSC2

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

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/-? - c.583A>G r.(?) p.(Ile195Val) g.2105504A>G - TSC2_000178 rs148325559 - Germline - - - - Despoina Kalfakakou
-?/-? - c.583A>G r.(?) p.(Ile195Val) g.2105504A>G - TSC2_000178 rs148325559 - Germline - - - - Despoina Kalfakakou
Legend