RGD:14691165 Rat Genome Database

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Variant: RGD:14691165 -  Homo sapiens

RGD ID: 14691165
RS ID: rs145382128
ClinVar ID: CV621924
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF9  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 62,974,050
GRCh38 X 63,754,170
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.63754170A>G
NG_016975.1:g.36377T>C
NM_001353927.2:c.-55+145T>C
NC_000023.10:g.62974050A>G
More... 		07/26/2017 intron variant likely benign Seizure disorder; Seizure Disorders
Disease Annotations     Click to see Annotation Detail View
epilepsy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ARHGEF9
Accession:NM_001369034
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001173480
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369037
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353927
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369035
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369042
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369038
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369044
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001330495
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369045
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369043
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369041
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369033
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369036
Location:5UTRS;INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369040
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001173479
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369031
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353926
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353924
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353921
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353923
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369039
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369030
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_015185
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369032
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353928
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353922
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000781962 CLINVAR
dbSNP (RS) rs145382128 CLINVAR
MedGen C0014544 CLINVAR
NCBI Gene ARHGEF9 CLINVAR
OMIM 300429 CLINVAR
SNOMED CT 84757009 CLINVAR