All transcript variants in gene TSC1

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

1 entry on 1 page. Showing entry 1.
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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.1053_1054insTG r.(?) p.(Val352Trpfs*5) g.135786476_135786477insCA - TSC1_000061 - - Germline - - - - Despoina Kalfakakou
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