View genomic variant #0000003638

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.25031054G>A
Published as -
GERP 3.870
Segregation -
DB-ID ARX_000001
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

26227
MedGen:C3463992,OMIM:308350
Epileptic encephalopathy, early infantile, 1
HGVS variant names NC 000023.10:g.25031054G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300382.0003,UniProtKB (protein):Q96QS3#VAR 015180
Gene symbol:Gene id. ARX:170302
SO:0001583|missense variant
1
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