RGD:12834998 Rat Genome Database

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Variant: RGD:12834998 -  Homo sapiens

RGD ID: 12834998
RS ID: rs1057521815
ClinVar ID: CV378526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF9  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 62,898,470
GRCh38 X 63,678,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016975.1:g.111957T>G
NC_000023.11:g.63678590A>C
NC_000023.10:g.62898470A>C
NM_001330495.2:c.499-18T>G
More... 		03/03/2016 intron variant likely benign AllHighlyPenetrant; Early infantile epileptic encephalopathy 8; HYPEREKPLEXIA AND EPILEPSY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGEF9
Accession:NM_001353926
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353924
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369043
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369045
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001330495
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369041
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369031
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369036
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353923
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353927
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369044
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001173480
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369042
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001173479
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369039
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369033
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369032
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_015185
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353921
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369037
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353922
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353928
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369035
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369040
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369038
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369034
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369030
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000420918 CLINVAR
  RCV002062678 CLINVAR
dbSNP (RS) rs1057521815 CLINVAR
MedGen C1845102 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARHGEF9 CLINVAR
OMIM 300429 CLINVAR
  300607 CLINVAR