Individual #00004160



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004160 ? ? 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.18646629_18646630delCT Scala E1, Ariani F, Mari F, Caselli R, Pescucci C, Longo I, Meloni I, Giachino D, Bruttini M, Hayek G, Zappella M, Renieri A.(2005) CDKL5_000011 - Y Yang CDKL5 18 NM_003159.2:c.2635_2636delCT r.(?) p.(Leu879Glufs*30) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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