View genomic variant #0000003626

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.18646494C>T
Published as -
GERP 5.730
Segregation -
DB-ID CDKL5_000009
MSCV MSCV_0003626
dbSNP ID rs122460158
Frequency -
Sources ; clinvar;
Reference 16813600
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.
Legend  

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 0000003626 +/+ - 19/22 c.2500C>T - - stop_gained - -
CDKL5 00000602 NM_003159.2 0000003626 +/+ - 19/22 c.2500C>T p.(Gln834*) - stop_gained - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000133352; RCV000012255;
Chromosome X:18646494..18646494
ClinVar Allele ID 26539
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.18646494C>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:300203.0007|RettBASE (CDKL5):40
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001587|nonsense
Allele origin
dbSNP ID 122460158
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
rs122460158X1864649418646494C/TOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CM062500X1864649418646494HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available