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)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 40 c.5138G>A r.(?) p.(Arg1713His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.2138118G>A Tyburczy ME1, Jozwiak S2, Malinowska IA1, Chekaluk Y1, Pugh TJ3, Wu CL4, Nussbaum RL5, Seepo S6, Dzik T2, Kotulska K2, Kwiatkowski DJ7.(2015) TSC2_000214 - ? ? 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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