Full data view for gene TSC1

Information The variants shown are described using the NM_000368.4 transcript reference sequence.

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

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Technique     

Disease     

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Ethnic origin     

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Owner     
./. 18 c.2293C>T r.(?) p.(Gln765*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.135778090G>A - TSC1_000089 - ? ? TSC - - - 1 Y Yang
./. 18 c.2293C>T r.(?) p.(Gln765*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation Unknown g.135778090G>A Chatterjee S1, Mukherjee SB2, Mendiratta V3, Aneja S2.(2014) TSC1_000089 - ? ? TSC Chatterjee S1, Mukherjee SB2, Mendiratta V3, Aneja S2.(2014) - - 1 Y Yang
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