Full data view for gene CDKL5

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 5/22 c.119C>T p.(Ala40Val) possibly_damaging(0.798) missense_variant - deleterious(0) Unknown subst g.18582616C>T - 4.850 - CDKL5_000010 rs122460159 - ; clinvar; 17993579;19793311 - - - - - - - - - - - - - - - - - - -
+/+ - 6/22 c.215T>A p.(Ile72Asn) probably_damaging(0.934) missense_variant - deleterious(0) Unknown subst g.18593543T>A - 5.690 - CDKL5_000001 rs62641235 - ; clinvar; 23757202;19396824 - - - - - - - - - - - - - - - - - - -
+/+ - 6/22 c.215T>C p.(Ile72Thr) possibly_damaging(0.803) missense_variant - deleterious(0) Unknown subst g.18593543T>C - 5.690 - CDKL5_000002 rs62641235 - ; clinvar; 23757202;19396824 - - - - - - - - - - - - - - - - - - -
+/+ - 8/22 c.455G>T p.(Cys152Phe) probably_damaging(0.951) missense_variant - deleterious(0) Unknown subst g.18600062G>T - 6.070 - CDKL5_000003 rs122460157 - ; clinvar; 15499549 - - - - - - - - - - - - - - - - - - -
+/+ - 9/22 c.525A>T p.(Arg175Ser) possibly_damaging(0.849) missense_variant - deleterious(0) Unknown subst g.18602444A>T - 1.280 - CDKL5_000004 rs61749700 - ; clinvar; 15499549 - - - - - - - - - - - - - - - - - - -
+?/+? - 9/22 c.533G>A p.(Arg178Gln) possibly_damaging(0.857) missense_variant - deleterious(0) Unknown subst g.18602452G>A - 5.600 - CDKL5_000005 rs267606715 - ; clinvar; 19793311;23757202 - - - - - - - - - - - - - - - - - - -
+?/+? - 9/22 c.533G>C p.(Arg178Pro) probably_damaging(0.96) missense_variant - deleterious(0) Unknown subst g.18602452G>C - 5.600 - CDKL5_000006 rs267606715 - ; clinvar; 19793311;23757202 - - - - - - - - - - - - - - - - - - -
+/+ - 12/22 c.863C>T p.(Thr288Ile) benign(0.379) missense_variant - tolerated(0.17) Unknown subst g.18616619C>T - 5.520 - CDKL5_000007 rs267606713 - ; clinvar; 18809835 - - - - - - - - - - - - - - - - - - -
+/+ - 12/22 c.872G>A p.(Cys291Tyr) possibly_damaging(0.671) missense_variant - deleterious(0) Unknown subst g.18616628G>A - 5.520 - CDKL5_000008 rs267606714 - ; clinvar; 18809835 - - - - - - - - - - - - - - - - - - -
+/+ - 19/22 c.2500C>T p.(Gln834*) - stop_gained - - Unknown subst g.18646494C>T - 5.730 - CDKL5_000009 rs122460158 - ; clinvar; 16813600 - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium