RGD:9688744 Rat Genome Database

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Variant: RGD:9688744 -  Homo sapiens

RGD ID: 9688744
RS ID: rs185674324
ClinVar ID: CV177905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAK3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 110,406,780
GRCh38 X 111,163,552
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.111163552G>T
NC_000023.10:g.110406780G>T
NM_001324325.2:c.601-10G>T
NM_001324326.2:c.601-10G>T
More...
06/21/2019 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PAK3
Accession:NM_001128167
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128168
Location:INTRON

Gene Symbol:PAK3
Accession:XM_005262132
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530968
Location:INTRON

Gene Symbol:PAK3
Accession:XM_006724655
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324332
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442150
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530971
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029563
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029558
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442149
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442147
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324327
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324328
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029560
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324331
Location:INTRON

Gene Symbol:PAK3
Accession:NM_002578
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442146
Location:INTRON

Gene Symbol:PAK3
Accession:XM_006724654
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128173
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530962
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324334
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029557
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324329
Location:INTRON

Gene Symbol:PAK3
Accession:XM_047442148
Location:INTRON

Gene Symbol:PAK3
Accession:XM_011530969
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324326
Location:INTRON

Gene Symbol:PAK3
Accession:XM_005262133
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324330
Location:INTRON

Gene Symbol:PAK3
Accession:XM_017029559
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128172
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001128166
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324325
Location:INTRON

Gene Symbol:PAK3
Accession:NM_001324333
Location:INTRON

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

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

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

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

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153639 CLINVAR
  RCV002056039 CLINVAR
  RCV003937428 CLINVAR
dbSNP (RS) rs185674324 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PAK3 CLINVAR
OMIM 300142 CLINVAR