View genomic variant #0000003652

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.62944437C>G
Published as -
GERP 5.550
Segregation -
DB-ID ARHGEF9_000002
MSCV MSCV_0003652
dbSNP ID rs121918361
Frequency -
Sources ; clinvar;
Reference 15215304
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     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
ARHGEF9 00003339 NM_001173479.1 0000003652 +/+ c.31-18108G>C p.(=) - - - - r.(=) -
ARHGEF9 00003238 NM_015185.2 0000003652 +/+ c.164G>C p.(Gly55Ala) missense_variant - 2/10 possibly_damaging(0.893) r.(?) tolerated(0.38)
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ClinVar @ MSeqDR

RCVaccession RCV000011796;
Chromosome X:62944437..62944437
ClinVar Allele ID 26088
Disease database name and identifier MedGen:C1845102, OMIM:300607, Orphanet:ORPHA163985
ClinVar preferred disease name Early infantile epileptic encephalopathy 8
HGVS variant names NC 000023.10:g.62944437C>G
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:300429.0001|UniProtKB (protein):O43307#VAR 028752
Gene symbol:Gene id. ARHGEF9:23229
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 121918361
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
rs121918361X6294443762944437C/GOMIM phenotype variantsEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8
CM045635X6294443762944437HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available