Individual #00004299



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004299 ? ? CDKL5 1 Y Yang



Variants

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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     
X Unknown ./. g.18622083C>T Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7, Meloni I1.(2015) CDKL5_000065 - Y Yang CDKL5 12 NM_003159.2:c.1039C>T r.(?) p.(Gln347*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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