Individual #00004156



Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004156 ? ? 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.18593511delT Weaving LS1, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.(2004) CDKL5_000007 - Y Yang CDKL5 5 NM_003159.2:c.183delT r.(?) p.(Met63Cysfs*13) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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