View genomic variant #0000003622

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.18602452G>A
Published as -
GERP 5.600
Segregation -
DB-ID CDKL5_000005
MSCV MSCV_0003622
dbSNP ID rs267606715
Frequency -
Sources ; clinvar;
Reference 19793311;23757202
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 0000003622 +?/+? - 9/22 c.533G>A p.(Arg178Gln) possibly_damaging(0.857) missense_variant - deleterious(0)
CDKL5 00000602 NM_003159.2 0000003622 +?/+? - 9/22 c.533G>A p.(Arg178Gln) possibly_damaging(0.857) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000169920; RCV000080074;
Chromosome X:18602452..18602452
ClinVar Allele ID 100013
Disease database name and identifier MedGen:C1839333, OMIM:300672|MedGen:CN517202
ClinVar preferred disease name Early infantile epileptic encephalopathy 2|not provided
HGVS variant names NC 000023.10:g.18602452G>A
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported HGMD:CM118357|RettBASE (CDKL5):132|UniProtKB (protein):O76039#VAR 071103
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 267606715
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000012262;
Chromosome X:18602452..18602452
ClinVar Allele ID 33489
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.18602452G>C
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:300203.0014|RettBASE (CDKL5):64|UniProtKB (protein):O76039#VAR 058026
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 267606715
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
CM085313X1860245218602452HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
rs267606715X1860245218602452G/C/Aclinically associatedEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2