RGD:13531486 Rat Genome Database

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Variant: RGD:13531486 -  Homo sapiens

RGD ID: 13531486
RS ID: rs1413001108
ClinVar ID: CV508620
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGEF9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 63,005,002
GRCh38 X 63,785,122
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.5425G>A
NC_000023.11:g.63785122C>T
NM_001173479.2:c.24G>A
NM_001353921.2:c.24G>A
More... 		03/09/2020 5 prime utr variant|synonymous variant likely benign Early infantile epileptic encephalopathy 8; HYPEREKPLEXIA AND EPILEPSY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGEF9
Accession:NM_001330495
Location:5UTRS;EXON

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

Gene Symbol:ARHGEF9
Accession:NM_001353921
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQWIRGGSGMLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVE
EGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIE
DIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDI
AIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDIL
DRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFK
LHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQD
PLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:ARHGEF9
Accession:NM_001353922
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQWIRGGSGMLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVE
EGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIE
DIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDI
AIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEDLIRR
DILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEI
SENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:ARHGEF9
Accession:NM_001173479
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 8
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQWIRGGSGMLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQC
RKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMK
DSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLEN
IDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEV
VDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVP
KQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:ARHGEF9
Accession:NM_001369045
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369038
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369040
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369033
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369044
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369042
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_015185
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369036
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369030
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369034
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369039
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001173480
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353928
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369037
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353927
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369031
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353924
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353926
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369041
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369035
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001369032
Location:INTRON

Gene Symbol:ARHGEF9
Accession:NM_001353923
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001437658 CLINVAR
  RCV001697358 CLINVAR
  RCV003900377 CLINVAR
dbSNP (RS) rs1413001108 CLINVAR
MedGen C1845102 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARHGEF9 CLINVAR
OMIM 300429 CLINVAR
  300607 CLINVAR