RGD:405059645 Rat Genome Database

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Variant: RGD:405059645 -  Homo sapiens

RGD ID: 405059645
ClinVar ID: CV2939403
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FPR1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 52,249,238
GRCh38 19 51,745,985
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000019.10:g.51745985T>C
NC_000019.9:g.52249238T>C
NM_002029.3:c.1010A>G
LRG_146p1:p.Asn337Ser
More...
02/24/2023 missense variant uncertain significance Gingival disease
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2939403Humangingival disease  IAGP 8554872ClinVar Annotator: match by term: Gingival disorderClinVarPMID:28492532


Gene Symbol:FPR1
Accession:NM_001193306
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF
FMVRKAMGGHWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV
IIRVTTVPGKTGTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL
RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL
ERALTEDSTQTSDTATSSTLPSAEVELQAK*

Gene Symbol:FPR1
Accession:NM_002029
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF
FMVRKAMGGHWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV
IIRVTTVPGKTGTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL
RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL
ERALTEDSTQTSDTATSSTLPSAEVELQAK*

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003762276 CLINVAR
MedGen C0017563 CLINVAR
NCBI Gene FPR1 CLINVAR
OMIM 136537 CLINVAR