RGD:405757031 Rat Genome Database

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Variant: RGD:405757031 -  Homo sapiens

RGD ID: 405757031
ClinVar ID: CV3367682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BUB1B-PAK6  PAK6  PAK6-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 40,544,933
GRCh38 15 40,252,732
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128628.3:c.-117-446C>T
NM_001128629.3:c.-117-446C>T
NM_001276718.2:c.-117-446C>T
NM_001395430.1:c.-117-446C>T
More... 		06/22/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PAK6
Accession:NM_001276718
Location:5UTRS;INTRON

Gene Symbol:PAK6
Accession:NM_020168
Location:5UTRS;INTRON

Gene Symbol:BUB1B-PAK6
Accession:NM_001128628
Location:5UTRS;INTRON

Gene Symbol:PAK6
Accession:NM_001395431
Location:5UTRS;INTRON

Gene Symbol:PAK6
Accession:NM_001395430
Location:5UTRS;INTRON

Gene Symbol:BUB1B-PAK6
Accession:NM_001128629
Location:5UTRS;INTRON

Gene Symbol:PAK6-AS1
Accession:NR_168270
Location:EXON;NON-CODING

Gene Symbol:PAK6
Accession:NM_001276717
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004500002 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BUB1B-PAK6 CLINVAR
  PAK6 CLINVAR
  PAK6-AS1 CLINVAR
OMIM 608110 CLINVAR