View genomic variant #0000003652

Chromosome X
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.62944437C>G
Published as -
GERP 5.550
Segregation -
DB-ID ARHGEF9_000002
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


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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


ClinVar @ MSeqDR

26088
MedGen:C1845102,OMIM:300607,Orphanet:ORPHA163985
Early infantile epileptic encephalopathy 8
HGVS variant names NC 000023.10:g.62944437C>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:300429.0001,UniProtKB (protein):O43307#VAR 028752
Gene symbol:Gene id. ARHGEF9:23229
SO:0001583|missense variant,SO:0001627|intron variant
1
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