View genomic variant #0000003623

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.18602452G>C
Published as -
GERP 5.600
Segregation -
DB-ID CDKL5_000006
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
CDKL5 NM_001037343.1 +?/+? - 9/22 c.533G>C p.(Arg178Pro) probably_damaging(0.96) missense_variant - deleterious(0)
CDKL5 NM_003159.2 +?/+? - 9/22 c.533G>C p.(Arg178Pro) probably_damaging(0.96) missense_variant - deleterious(0)


ClinVar @ MSeqDR

100013
MedGen:C1839333,OMIM:300672|MedGen:CN517202
Early infantile epileptic encephalopathy 2|not provided
HGVS variant names NC 000023.10:g.18602452G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM118357,RettBASE (CDKL5):132,UniProtKB (protein):O76039#VAR 071103
Gene symbol:Gene id. CDKL5:6792
SO:0001583|missense variant
33
dbSNP ID 267606715
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

33489
MedGen:C1839333,OMIM:300672
Early infantile epileptic encephalopathy 2
HGVS variant names NC 000023.10:g.18602452G>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300203.0014,RettBASE (CDKL5):64,UniProtKB (protein):O76039#VAR 058026
Gene symbol:Gene id. CDKL5:6792
SO:0001583|missense variant
33
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