Individual #00004743



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004743 ? ? TSC2 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
16 Unknown ./. g.2122985G>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_000216 - Y Yang TSC2 20i NM_000548.3:c.2355+1G>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -
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