RGD:28880862 Rat Genome Database

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Variant: RGD:28880862 -  Homo sapiens

RGD ID: 28880862
RS ID: rs2063449483
ClinVar ID: CV860882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PQBP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,760,200
GRCh38 X 48,902,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144495.3:c.357-5G>A
NM_001167990.2:c.618-5G>A
NM_001032381.2:c.642-5G>A
NM_001032383.2:c.642-5G>A
More... 		01/27/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PQBP1
Accession:NM_001167989
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001032383
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001032382
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_144495
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001032381
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001167990
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_005710
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001032384
Location:INTRON

Gene Symbol:PQBP1
Accession:NM_001167992
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_005272572
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_005272571
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_011543884
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_017029207
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_047441754
Location:INTRON

Gene Symbol:PQBP1
Accession:XM_047441753
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001091018 CLINVAR
dbSNP (RS) rs2063449483 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PQBP1 CLINVAR
  SLC35A2 CLINVAR
OMIM 300463 CLINVAR
  314375 CLINVAR