RGD:13810725 Rat Genome Database

Variant: RGD:13810725 - Homo sapiens

RGD ID:

13810725

RS ID:

rs1365914320

ClinVar ID:

CV572553

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARHGEF9

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	62,858,006
GRCh38	X	63,638,126

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001369043.1:c.111G>A NM_001369044.1:c.111G>A NM_001173480.2:c.1147G>A NM_001369042.1:c.1147G>A More...	12/01/2019	3 prime utr variant\|missense variant	uncertain significance	Autism spectrum disorders; Early infantile epileptic encephalopathy 8; HYPEREKPLEXIA AND EPILEPSY; none provided

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (IAGP)

developmental and epileptic encephalopathy 8 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ARHGEF9
Accession:	NM_001369044
Location:	3UTRS;EXON

Gene Symbol:	ARHGEF9
Accession:	NM_001369043
Location:	3UTRS;EXON

Gene Symbol:	ARHGEF9
Accession:	NM_001330495
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353926
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	425

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMF SDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHF FEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGR DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNS ARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369039
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	425

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMF SDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHF FEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGR DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNS ARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001173479
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	432

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQWIRGGSGMLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQC RKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMK DSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLEN IDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEV VDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVP KQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369035
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369031
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	485

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQ NGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELI YTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETE EIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY LVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369042
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	383

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGP CFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQ DHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFL FDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFRE ERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQS PFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353923
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	498

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVALAAPHASARSRSLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVN QEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKV IFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLL QQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDW EGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVS MKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPS YPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353928
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	441

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQ NGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEDLIRRDILYYKG RIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQ AAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369040
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	425

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMF SDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHF FEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGR DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNS ARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369045
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQ HFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIA QWQASVLDWEDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFRE ERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQS PFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369032
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	485

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYDLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQ NGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELI YTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETE EIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY LVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353921
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	492

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQWIRGGSGMLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVE EGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIE DIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDI AIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDIL DRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFK LHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQD PLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353927
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	420

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFN VSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVP PSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369041
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	420

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFN VSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVP PSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369034
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369030
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	485

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQ NGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELI YTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETE EIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY LVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369038
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_015185
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	485

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQ NGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELI YTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETE EIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY LVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001173480
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	383

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGP CFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQ DHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFL FDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFRE ERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQS PFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369033
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369037
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353922
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	448

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQWIRGGSGMLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVE EGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIE DIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDI AIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEDLIRR DILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEI SENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001353924
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	425

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTLLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMF SDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHF FEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGR DDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNS ARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK*

Gene Symbol:	ARHGEF9
Accession:	NM_001369036
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	464

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRD QMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIG PCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTA QDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFF LFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFR EERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDSIAQSQVFEFTEPKRSQ SPFWQNFSRLTPFKK*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:26467025	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000702734	CLINVAR
	RCV000991545	CLINVAR
	RCV001249525	CLINVAR
dbSNP (RS)	rs1365914320	CLINVAR
MedGen	C1510586	CLINVAR
	C1845102	CLINVAR
	C3661900	CLINVAR
NCBI Gene	ARHGEF9	CLINVAR
OMIM	300429	CLINVAR
	300607	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13810725 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13810725 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar