RGD:28882641 Rat Genome Database

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Variant: RGD:28882641 -  Homo sapiens

RGD ID: 28882641
RS ID: rs192192146
ClinVar ID: CV902702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAK3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 110,346,499
GRCh38 X 111,103,271
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128166.3:c.-27-19806A>G
NM_001324328.2:c.-28+5587A>G
NR_136743.2:n.451A>G
NM_001128173.3:c.-63A>G
More... 		01/13/2018 5 prime utr variant benign INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30; MENTAL RETARDATION, X-LINKED 47
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAK3
Accession:NM_001324330
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001324332
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001324329
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001128168
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001324325
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_011530968
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_017029557
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_011530969
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_002578
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_047442148
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_047442149
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001324334
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_017029559
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_017029563
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_005262133
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_005262132
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_011530962
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_011530971
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001324333
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001128173
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:XM_047442146
Location:5UTRS;EXON

Gene Symbol:PAK3
Accession:NM_001128167
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:XM_006724654
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:XM_017029560
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:XM_017029558
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:XM_006724655
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NM_001324327
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NM_001324326
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NM_001324331
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NM_001324328
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NM_001128166
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:XM_047442147
Location:5UTRS;INTRON

Gene Symbol:PAK3
Accession:NR_136746
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136745
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136744
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136748
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136742
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136743
Location:EXON;NON-CODING

Gene Symbol:PAK3
Accession:XM_047442150
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128172
Location:INTRON

Gene Symbol:PAK3
Accession:NR_136740
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136747
Location:INTRON;NON-CODING

Gene Symbol:PAK3
Accession:NR_136741
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167965 CLINVAR
dbSNP (RS) rs192192146 CLINVAR
MedGen C0796237 CLINVAR
NCBI Gene PAK3 CLINVAR
OMIM 300142 CLINVAR
  300558 CLINVAR