Genomic variant #0000003626

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.18646494C>T
Published as -
GERP 5.730
Segregation -
DB-ID CDKL5_000009
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CDKL5 NM_001037343.1 +/+ - 19/22 c.2500C>T - - stop_gained - -
CDKL5 NM_003159.2 +/+ - 19/22 c.2500C>T p.(Gln834*) - stop_gained - -


ClinVar @ MSeqDR

26539
MedGen:C1839333,OMIM:300672|MedGen:C2748910,Orphanet:ORPHA3095
Early infantile epileptic encephalopathy 2|Atypical Rett syndrome
HGVS variant names NC 000023.10:g.18646494C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300203.0007|RettBASE (CDKL5):40
Gene symbol:Gene id. CDKL5:6792
SO:0001587|nonsense
33
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