Genomic variant #0000003619

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.18593543T>C
Published as -
GERP 5.690
Segregation -
DB-ID CDKL5_000002
dbSNP ID rs62641235
Frequency -
Sources ; clinvar;
Reference 23757202;19396824
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 +/+ - 6/22 c.215T>C p.(Ile72Thr) possibly_damaging(0.803) missense_variant - deleterious(0)
CDKL5 NM_003159.2 +/+ - 6/22 c.215T>C p.(Ile72Thr) possibly_damaging(0.803) missense_variant - deleterious(0)


ClinVar @ MSeqDR

153529
MedGen:C2748910,Orphanet:ORPHA3095
Atypical Rett syndrome
HGVS variant names NC 000023.10:g.18593543T>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
RettBASE (CDKL5):20|UniProtKB (protein):O76039#VAR 058023
Gene symbol:Gene id. CDKL5:6792
SO:0001583|missense variant
32
dbSNP ID 62641235
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

26542
MedGen:C0035372,OMIM:312750,Orphanet:ORPHA778,SNOMED CT:68618008|MedGen:C1839333,OMIM:300672|MedGen:CN517202
Rett syndrome|Early infantile epileptic encephalopathy 2|not provided
HGVS variant names NC 000023.10:g.18593543T>C
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM092314|OMIM Allelic Variant:300203.0010|RettBASE (CDKL5):87|UniProtKB (protein):O76039#VAR 058024
Gene symbol:Gene id. CDKL5:6792
SO:0001583|missense variant
33
dbSNP ID 62641235
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
rs62641235X1859354318593543T/A/COMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CM057649X1859354318593543HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM092314X1859354318593543HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available