View genomic variant #0000003618

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.18593543T>A
Published as -
GERP 5.690
Segregation -
DB-ID CDKL5_000001
MSCV MSCV_0003618
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

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 0000003618 +/+ - 6/22 c.215T>A p.(Ile72Asn) probably_damaging(0.934) missense_variant - deleterious(0)
CDKL5 00000602 NM_003159.2 0000003618 +/+ - 6/22 c.215T>A p.(Ile72Asn) probably_damaging(0.934) missense_variant - deleterious(0)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000133344;
Chromosome X:18593543..18593543
ClinVar Allele ID 153529
Disease database name and identifier MedGen:C2748910, Orphanet:ORPHA3095
ClinVar preferred disease name Atypical Rett syndrome
HGVS variant names NC 000023.10:g.18593543T>A
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 RettBASE (CDKL5):20|UniProtKB (protein):O76039#VAR 058023
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin de-novo
dbSNP ID 62641235
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000012258; RCV000169913; RCV000080068;
Chromosome X:18593543..18593543
ClinVar Allele ID 26542
Disease database name and identifier MedGen:C0035372, OMIM:312750, Orphanet:ORPHA778, SNOMED CT:68618008|MedGen:C1839333, OMIM:300672|MedGen:CN517202
ClinVar preferred disease name Rett syndrome|Early infantile epileptic encephalopathy 2|not provided
HGVS variant names NC 000023.10:g.18593543T>C
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported HGMD:CM092314|OMIM Allelic Variant:300203.0010|RettBASE (CDKL5):87|UniProtKB (protein):O76039#VAR 058024
Gene symbol:Gene id. CDKL5:6792
Molecular consequence SO:0001583|missense variant
Allele origin
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