Individual #00004195

Reference Sprovieri T1, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.(2009)
Ethnic origin -
Remarks -
Panel size 1
Diseases RTT
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000004195 ? ? CDKL5 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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AscendingDNA change (genomic) (hg19)     

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X Unknown ./. g.18622240A>C Sprovieri T1, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A.(2009) CDKL5_000041 - Y Yang CDKL5 12 NM_003159.2:c.1196A>C r.(?) p.(Asn399Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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