View genomic variant #0000003638

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.25031054G>A
Published as -
GERP 3.870
Segregation -
DB-ID ARX_000001
MSCV MSCV_0003638
dbSNP ID rs104894743
Frequency -
Sources ; clinvar;
Reference 11889467;12177367
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ARX 00003299 NM_139058.2 0000003638 +/+ c.1058C>T p.(Pro353Leu) missense_variant - 2/5 benign(0.05) r.(?) tolerated(0.07)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000011939;
Chromosome X:25031054..25031054
ClinVar Allele ID 26227
Disease database name and identifier MedGen:C3463992, OMIM:308350
ClinVar preferred disease name Epileptic encephalopathy, early infantile, 1
HGVS variant names NC 000023.10:g.25031054G>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 OMIM Allelic Variant:300382.0003|UniProtKB (protein):Q96QS3#VAR 015180
Gene symbol:Gene id. ARX:170302
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 104894743
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
rs28936074X2503105425031054G/AUniprot phenotype variantsEpileptic encephalopathy early infantile type 1
rs28936074X2503105425031054G/AUniprot phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
rs104894743X2503105425031054G/AOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
rs104894743X2503105425031054G/AOMIM phenotype variantsWest syndrome
CM020626X2503105425031054HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available
CM040211X2503105425031054HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available