View all transcript variants in 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     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ - 5/22 c.119C>T p.(Ala40Val) possibly_damaging(0.798) missense_variant - deleterious(0) X Unknown subst g.18582616C>T - 4.850 - CDKL5_000010 MSCV_0003617 rs122460159 - ; clinvar; 17993579;19793311 - - -
+/+ - 6/22 c.215T>A p.(Ile72Asn) probably_damaging(0.934) missense_variant - deleterious(0) X Unknown subst g.18593543T>A - 5.690 - CDKL5_000001 MSCV_0003618 rs62641235 - ; clinvar; 23757202;19396824 - - -
+/+ - 6/22 c.215T>C p.(Ile72Thr) possibly_damaging(0.803) missense_variant - deleterious(0) X Unknown subst g.18593543T>C - 5.690 - CDKL5_000002 MSCV_0003619 rs62641235 - ; clinvar; 23757202;19396824 - - -
+/+ - 8/22 c.455G>T p.(Cys152Phe) probably_damaging(0.951) missense_variant - deleterious(0) X Unknown subst g.18600062G>T - 6.070 - CDKL5_000003 MSCV_0003620 rs122460157 - ; clinvar; 15499549 - - -
+/+ - 9/22 c.525A>T p.(Arg175Ser) possibly_damaging(0.849) missense_variant - deleterious(0) X Unknown subst g.18602444A>T - 1.280 - CDKL5_000004 MSCV_0003621 rs61749700 - ; clinvar; 15499549 - - -
+?/+? - 9/22 c.533G>A p.(Arg178Gln) possibly_damaging(0.857) missense_variant - deleterious(0) X Unknown subst g.18602452G>A - 5.600 - CDKL5_000005 MSCV_0003622 rs267606715 - ; clinvar; 19793311;23757202 - - -
+?/+? - 9/22 c.533G>C p.(Arg178Pro) probably_damaging(0.96) missense_variant - deleterious(0) X Unknown subst g.18602452G>C - 5.600 - CDKL5_000006 MSCV_0003623 rs267606715 - ; clinvar; 19793311;23757202 - - -
+/+ - 12/22 c.863C>T p.(Thr288Ile) benign(0.379) missense_variant - tolerated(0.17) X Unknown subst g.18616619C>T - 5.520 - CDKL5_000007 MSCV_0003624 rs267606713 - ; clinvar; 18809835 - - -
+/+ - 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 - - -
+/+ - 19/22 c.2500C>T p.(Gln834*) - stop_gained - - X Unknown subst g.18646494C>T - 5.730 - CDKL5_000009 MSCV_0003626 rs122460158 - ; clinvar; 16813600 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium