View all transcript variants in gene CDKL5

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ - 19/22 c.2500C>T p.(Gln834*) - stop_gained - - subst g.18646494C>T - 5.730 - CDKL5_000009 rs122460158 - ; clinvar; 16813600 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium