rs74731529 Rat Genome Database
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Summary
Annotation
ClinVar Data
Imported Disease - ClinVar
Variant Details
Variant Transcripts
Variant Samples
PubMed References
Additional Information
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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
Annotation
Click to see Annotation Summary View
ClinVar Data
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
Imported Disease Annotations - ClinVar
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1670861
Human
hereditary breast ovarian cancer syndrome
IAGP
8554872
ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome
ClinVar
PMID:25741868
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Disease Annotations
Click to see Annotation Summary View
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hereditary breast ovarian cancer syndrome
(IAGP)
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Variant Details
Variant Transcripts
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
.
Variant Samples
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ClinVar GRCh37
ClinVar GRCh38
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Additional References at PubMed
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PMID:
25741868
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Additional Information
External Database Links
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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
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