RGD:8696332 Rat Genome Database

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Variant: RGD:8696332 -  Homo sapiens

RGD ID: 8696332
RS ID: rs587777553
ClinVar ID: CV150286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARHGDIA  LOC127888506  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 79,827,106
GRCh38 17 81,869,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000017.11:g.81869230G>A
NC_000017.10:g.79827106G>A
NG_034210.1:g.7177C>T
NP_004300.1:p.Arg120Ter
More... 		03/10/2015 non-coding transcript variant|nonsense pathogenic all ages|variable
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARHGDIA
Accession:NM_001185077
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLT
PVEEAPKGMLARGSYSIKSRFTDDDKTDHLSWEWNLTIKKDWKD*

Gene Symbol:ARHGDIA
Accession:NM_001301240
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLT
PVEEAPKGSISPSHPRPGFRRERSSHSPGPVVAPGRVRLLLRGGAGVWDARPRGGRAVLQPRCSLASPLVAVGPV*

Gene Symbol:ARHGDIA
Accession:NM_001301241
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLT
PVEEAPKGSISPSHPRPGFRRERSSHSPGPVVAPGRVRLLLRGGAGVWDARPRGGRAVLQPRCSLASPLVAVGPV*

Gene Symbol:ARHGDIA
Accession:NM_004309
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLT
PVEEAPKGMLARGSYSIKSRFTDDDKTDHLSWEWNLTIKKDWKD*

Gene Symbol:ARHGDIA
Accession:XM_011523574
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGECPAAAGVRAAPGGDLGKCSQGAAQGWGFAQGCWAVIEGEVPPTGDLESFKKQSFVLKEGVEYRIKIS
FRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLTPVEEAPKGMLARGSYSIKSRFTDDDKTDHLSWEWN
LTIKKDWKD*

Gene Symbol:ARHGDIA
Accession:NM_001185078
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKNDDKTDHLSWEWNLTIKKDWKD
*

Gene Symbol:ARHGDIA
Accession:NM_001301242
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGDLESFKKQSFVLKEGVEYRIKISFRVN*EIVSGMKYIQHTYRKGVKIDKTDYMTTTRPTTCPGSGISP
SRRTGRTEPSQRRAGQTDGRTTDRRMCPPQPLPSPYQSADRPSVPLPPWSASLAWLNRVPPTPLLSPPPPTGPASSVSCL
VAASACAVGERGRSQASAALSVPPRFYLPVTPEAWLQEGAEQPFSRPRGCPWTCASAAPGWSWGVGCTASWGPGRPPAPL
LPGQPPCRCRSRLTMMP*

Gene Symbol:ARHGDIA
Accession:NM_001301243
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQEPTAEQLAQIAAENEEDEHSVNYKPPAQKSIQEIQELDKDDESLRKYKEALLGRVAVSADPNVPNVVVTGLTLVCS
SAPGPLELDLTGECPAAAGVRAAPGGDLGKCSQGAAQGWGFAQGCWAVIEGEVPPTGDLESFKKQSFVLKEGVEYRIKIS
FRVN*EIVSGMKYIQHTYRKGVKIDKTDYMVGSYGPRAEEYEFLTPVEEAPKGMLARGSYSIKSRFTDDDKTDHLSWEWN
LTIKKDWKD*

Gene Symbol:ARHGDIA
Accession:NR_125441
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000128809 CLINVAR
dbSNP (RS) rs587777553 CLINVAR
MedGen C3808953 CLINVAR
NCBI Gene ARHGDIA CLINVAR
OMIM 601925 CLINVAR
  615244 CLINVAR
OMIM Allele 601925.0003 CLINVAR