RGD:156124171 Rat Genome Database

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Variant: RGD:156124171 -  Homo sapiens

RGD ID: 156124171
ClinVar ID: CV1892774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FPR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 52,249,980
GRCh38 19 51,746,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_146t1:c.268C>T
NM_001193306.2:c.268C>T
NM_002029.4:c.268C>T
LRG_146:g.10171C>T
More... 		09/13/2022 missense variant uncertain significance Gingival disease
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1892774Humangingival disease  IAGP 8554872ClinVar Annotator: match by term: Gingival diseaseClinVarPMID:28492532
Gene Symbol:FPR1
Accession:NM_002029
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF
FMVRKAMGGYWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV
IIRVTTVPGKTGTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL
RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL
ERALTEDSTQTSDTATNSTLPSAEVELQAK*

Gene Symbol:FPR1
Accession:NM_001193306
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METNSSLPTNISGGTPAVSAGYLFLDIITYLVFAVTFVLGVLGNGLVIWVAGFRMTHTVTTISYLNLAVADFCFTSTLPF
FMVRKAMGGYWPFGWFLCKFVFTIVDINLFGSVFLIALIALDRCVCVLHPVWTQNHRTVSLAKKVIIGPWVMALLLTLPV
IIRVTTVPGKTGTVACTFNFSPWTNDPKERINVAVAMLTVRGIIRFIIGFSAPMSIVAVSYGLIATKIHKQGLIKSSRPL
RVLSFVAAAFFLCWSPYQVVALIATVRIRELLQGMYKEIGIAVDVTSALAFFNSCLNPMLYVFMGQDFRERLIHALPASL
ERALTEDSTQTSDTATNSTLPSAEVELQAK*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003081568 CLINVAR
MedGen C0017563 CLINVAR
NCBI Gene FPR1 CLINVAR
OMIM 136537 CLINVAR