rs74731529 Rat Genome Database

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Variant: rs74731529 -  Homo sapiens

RGD ID: 152058951
RS ID: rs74731529
ClinVar ID: CV1670861
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPP2R2A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 26,221,480
GRCh38 8 26,363,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001177591.2:c.1002+74C>G
NM_002717.4:c.972+74C>G
NC_000008.11:g.26363964C>G
NC_000008.10:g.26221480C>G
04/19/2022 intron variant likely benign Breast and ovarian cancer; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome (HBOC); Hereditary breast and/or ovarian cancer syndrome; none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1670861Humanhereditary breast ovarian cancer syndrome  IAGP 8554872ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndromeClinVarPMID:25741868


Gene Symbol:PPP2R2A
Accession:NM_002717
Location:INTRON

Gene Symbol:PPP2R2A
Accession:NM_001177591
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_005273559
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_011544565
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_024447186
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_024447187
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_047421936
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_047421935
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_047421933
Location:INTRON

Gene Symbol:PPP2R2A
Accession:XM_047421934
Location:INTRON

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV002226380 CLINVAR
  RCV004706431 CLINVAR
dbSNP (RS) rs74731529 CLINVAR
MedGen C0677776 CLINVAR
  C3661900 CLINVAR
NCBI Gene PPP2R2A CLINVAR
OMIM 604941 CLINVAR