View all transcript variants in gene CDKL5

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

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ - 12/22 c.872G>A p.(Cys291Tyr) possibly_damaging(0.671) missense_variant - deleterious(0) X Unknown subst g.18616628G>A - 5.520 - CDKL5_000008 MSCV_0003625 rs267606714 - ; clinvar; 18809835 - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium