View genomic variant #0000003620

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.18600062G>T
Published as -
GERP 6.070
Segregation -
DB-ID CDKL5_000003
MSCV MSCV_0003620
dbSNP ID rs122460157
Frequency -
Sources ; clinvar;
Reference 15499549
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 0000003620 +/+ - 8/22 c.455G>T p.(Cys152Phe) probably_damaging(0.951) missense_variant - deleterious(0)
CDKL5 00000602 NM_003159.2 0000003620 +/+ - 8/22 c.455G>T p.(Cys152Phe) probably_damaging(0.951) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000585869;
Chromosome X:18600062..18600062
ClinVar Allele ID 486784
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.18600062G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported NeuroMeGen, Hospital Clinico Universitario de Santiago de Compostela:131
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin de-novo
dbSNP ID 122460157
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000133370; RCV000012251;
Chromosome X:18600062..18600062
ClinVar Allele ID 26535
Disease database name and identifier MedGen:C1839333, OMIM:300672|MedGen:C2748910, Orphanet:ORPHA3095
ClinVar preferred disease name Early infantile epileptic encephalopathy 2|Atypical Rett syndrome
HGVS variant names NC 000023.10:g.18600062G>T
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:300203.0003|RettBASE (CDKL5):7|UniProtKB (protein):O76039#VAR 023560
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 122460157
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
rs122460157X1860006218600062G/TOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CM042955X1860006218600062HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available