RGD:40888075 Rat Genome Database

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Variant: RGD:40888075 -  Homo sapiens

RGD ID: 40888075
RS ID: rs1782949423
ClinVar ID: CV973618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAC1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 6,426,884
GRCh38 7 6,387,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.6387253A>G
NC_000007.13:g.6426884A>G
NM_018890.3:c.77A>G
NP_008839.2:p.Asn26Ser
More... 		04/27/2022 missense variant likely pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAC1
Accession:NM_018890
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAIKCVVVGDGAVGKTCLLISYTTSAFPGEYIPTVFDNYSANVMVDGKPVNLGLWDTAGQEDYDRLRPLSYPQTVGETY
GKDITSRGKDKPIADVFLICFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRDDKDTIEKLKEKKLTPITYPQ
GLAMAKEIGAVKYLECSALTQRGLKTVFDEAIRAVLCPPPVKKRKRKCLLL*

Gene Symbol:RAC1
Accession:NM_006908
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAIKCVVVGDGAVGKTCLLISYTTSAFPGEYIPTVFDNYSANVMVDGKPVNLGLWDTAGQEDYDRLRPLSYPQTDVFLI
CFSLVSPASFENVRAKWYPEVRHHCPNTPIILVGTKLDLRDDKDTIEKLKEKKLTPITYPQGLAMAKEIGAVKYLECSAL
TQRGLKTVFDEAIRAVLCPPPVKKRKRKCLLL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001267613 CLINVAR
  RCV001824437 CLINVAR
dbSNP (RS) rs1782949423 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene RAC1 CLINVAR
OMIM 602048 CLINVAR