All transcript variants in gene TSC1

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 rs771341361 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 rs771341361 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 rs771341361 - Germline - - - - Despoina Kalfakakou
-?/-? - c.1943T>C r.(?) p.(Val648Ala) g.135781022A>G - TSC1_000016 rs771341361 - Germline - - - - Despoina Kalfakakou
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