View genomic variant #0000003625

Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.18616628G>A
Published as -
GERP 5.520
Segregation -
DB-ID CDKL5_000008
MSCV MSCV_0003625
dbSNP ID rs267606714
Frequency -
Sources ; clinvar;
Reference 18809835
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CDKL5 00000603 NM_001037343.1 0000003625 +/+ - 12/22 c.872G>A p.(Cys291Tyr) possibly_damaging(0.671) missense_variant - deleterious(0)
CDKL5 00000602 NM_003159.2 0000003625 +/+ - 12/22 c.872G>A p.(Cys291Tyr) possibly_damaging(0.671) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000012260;
Chromosome X:18616628..18616628
ClinVar Allele ID 26544
Disease database name and identifier MedGen:C1839333, OMIM:300672
ClinVar preferred disease name Early infantile epileptic encephalopathy 2
HGVS variant names NC 000023.10:g.18616628G>A
ClinVar review status no assertion criteria provided
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Pathogenic(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300203.0012|RettBASE (CDKL5):62|UniProtKB (protein):O76039#VAR 058029
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 267606714
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
CM085314X1861662818616628HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs267606714X1861662818616628G/Aclinically associatedEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2