Full data view for gene TSC2

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     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 34 c.4051G>T r.(?) p.(Glu1351*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.2134274G>T Tyburczy ME1, Jozwiak S2, Malinowska IA1, Chekaluk Y1, Pugh TJ3, Wu CL4, Nussbaum RL5, Seepo S6, Dzik T2, Kotulska K2, Kwiatkowski DJ7.(2015) TSC2_000212 - ? ? TSC Tyburczy ME1, Jozwiak S2, Malinowska IA1, Chekaluk Y1, Pugh TJ3, Wu CL4, Nussbaum RL5, Seepo S6, Dzik T2, Kotulska K2, Kwiatkowski DJ7.(2015) - - 1 Y Yang
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