FPR1 (formyl peptide receptor 1) - Rat Genome Database

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Gene: FPR1 (formyl peptide receptor 1) Homo sapiens
Analyze
Symbol: FPR1
Name: formyl peptide receptor 1
RGD ID: 1322039
HGNC Page HGNC:3826
Description: Enables G protein-coupled receptor binding activity and N-formyl peptide receptor activity. Acts upstream of or within phospholipase C-activating G protein-coupled receptor signaling pathway. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: fMet-Leu-Phe receptor; FMLP; fMLP receptor; FPR; N-formyl peptide receptor; N-formylpeptide chemoattractant receptor
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC011352.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,745,172 - 51,751,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,745,172 - 51,804,115 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,248,425 - 52,255,131 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,940,838 - 56,946,962 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,940,838 - 56,946,962NCBI
Celera1949,298,576 - 49,304,713 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,579,824 - 48,585,911 (-)NCBIHuRef
CHM1_11952,250,849 - 52,256,974 (-)NCBICHM1_1
T2T-CHM13v2.01954,832,367 - 54,839,072 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1322204   PMID:1373134   PMID:1445895   PMID:1612600   PMID:1712023   PMID:2161213   PMID:2176894   PMID:2541200   PMID:2834384   PMID:6129903   PMID:7836371   PMID:7945424  
PMID:7947984   PMID:8224916   PMID:8228254   PMID:8663057   PMID:10514456   PMID:10753626   PMID:10820279   PMID:10823817   PMID:10857861   PMID:10861041   PMID:10882119   PMID:10889468  
PMID:11023526   PMID:11559706   PMID:11860029   PMID:12218158   PMID:12410796   PMID:12424254   PMID:12477932   PMID:12507995   PMID:12565836   PMID:12595898   PMID:12902510   PMID:15057824  
PMID:15187149   PMID:15195697   PMID:15210802   PMID:15258259   PMID:15489334   PMID:15625007   PMID:15661400   PMID:15866865   PMID:15928303   PMID:16002663   PMID:16038804   PMID:16114510  
PMID:16253958   PMID:16530386   PMID:16675446   PMID:16953235   PMID:17234990   PMID:17267694   PMID:17442310   PMID:17452560   PMID:17692291   PMID:17927965   PMID:18056353   PMID:18060741  
PMID:18253729   PMID:18577758   PMID:18952127   PMID:19037090   PMID:19167353   PMID:19254133   PMID:19414538   PMID:19530962   PMID:19722801   PMID:19843937   PMID:19892918   PMID:20019777  
PMID:20056178   PMID:20197768   PMID:20237496   PMID:20930115   PMID:21144844   PMID:21216225   PMID:21254404   PMID:21372136   PMID:21873635   PMID:21921027   PMID:22005393   PMID:22094028  
PMID:22174875   PMID:22447027   PMID:22768936   PMID:22859307   PMID:23012360   PMID:23147350   PMID:23164356   PMID:23185575   PMID:23238745   PMID:23373827   PMID:23562731   PMID:23873933  
PMID:24466048   PMID:24778024   PMID:24778447   PMID:24939696   PMID:25031270   PMID:25109685   PMID:25201101   PMID:25263443   PMID:25277308   PMID:25529763   PMID:26071379   PMID:26516201  
PMID:26966188   PMID:27432059   PMID:27569419   PMID:27907124   PMID:28005267   PMID:28232203   PMID:28465589   PMID:28724995   PMID:29216889   PMID:29313979   PMID:29427663   PMID:29665744  
PMID:29932988   PMID:30031130   PMID:30649440   PMID:31116781   PMID:31534221   PMID:31703596   PMID:32102985   PMID:32340221   PMID:32391192   PMID:32403233   PMID:32530982   PMID:33344044  
PMID:33489470   PMID:33713152   PMID:33789297   PMID:33920954   PMID:33945309   PMID:33961781   PMID:33964283   PMID:34026338   PMID:34428707   PMID:35217703   PMID:35382852   PMID:35878025  
PMID:36309087   PMID:36750693   PMID:36970071   PMID:38438091  


Genomics

Comparative Map Data
FPR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,745,172 - 51,751,878 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,745,172 - 51,804,115 (-)EnsemblGRCh38hg38GRCh38
GRCh371952,248,425 - 52,255,131 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,940,838 - 56,946,962 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,940,838 - 56,946,962NCBI
Celera1949,298,576 - 49,304,713 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,579,824 - 48,585,911 (-)NCBIHuRef
CHM1_11952,250,849 - 52,256,974 (-)NCBICHM1_1
T2T-CHM13v2.01954,832,367 - 54,839,072 (-)NCBIT2T-CHM13v2.0
Fpr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391718,096,733 - 18,104,201 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1718,096,733 - 18,104,202 (-)EnsemblGRCm39 Ensembl
GRCm381717,876,471 - 17,883,939 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1717,876,471 - 17,883,940 (-)EnsemblGRCm38mm10GRCm38
MGSCv371718,013,435 - 18,020,903 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361717,581,089 - 17,588,557 (-)NCBIMGSCv36mm8
Celera1718,817,219 - 18,824,687 (-)NCBICelera
Cytogenetic Map17A3.2NCBI
cM Map1710.63NCBI
Fpr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8167,417,991 - 67,429,813 (-)NCBIGRCr8
mRatBN7.2158,745,019 - 58,756,776 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl158,747,246 - 58,756,559 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx163,572,199 - 63,573,406 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0172,264,846 - 72,266,053 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0165,482,253 - 65,483,460 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0159,759,025 - 59,767,258 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl159,765,835 - 59,767,042 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0160,678,373 - 60,686,780 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4156,587,183 - 56,588,390 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1156,590,267 - 56,591,306 (-)NCBI
Celera154,929,280 - 54,930,487 (-)NCBICelera
Cytogenetic Map1q12NCBI
FPR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22057,789,383 - 57,795,703 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11959,709,137 - 59,719,986 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01948,689,984 - 48,696,121 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11957,569,337 - 57,575,454 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1957,569,506 - 57,570,558 (-)Ensemblpanpan1.1panPan2
LOC101973797
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093494,740,837 - 4,746,114 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004937026155,550 - 156,608 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004937026155,550 - 156,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FPR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1644,568,338 - 44,574,614 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl644,568,501 - 44,569,559 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607324,622,818 - 24,629,124 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fpr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,308,802 - 3,309,845 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,305,274 - 3,309,964 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FPR1
210 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002029.4(FPR1):c.26C>T (p.Thr9Met) single nucleotide variant Gingival disorder [RCV002231220]|not provided [RCV001703188] Chr19:51746969 [GRCh38]
Chr19:52250222 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.348C>T (p.Ile116=) single nucleotide variant Gingival disorder [RCV002231222]|not provided [RCV004717650] Chr19:51746647 [GRCh38]
Chr19:52249900 [GRCh37]
Chr19:19q13.41
benign
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
NM_002029.3(FPR1):c.516G>A (p.Gly172=) single nucleotide variant Malignant melanoma [RCV000063611] Chr19:51746479 [GRCh38]
Chr19:52249732 [GRCh37]
Chr19:56941544 [NCBI36]
Chr19:19q13.41
not provided
NM_002029.4(FPR1):c.772C>T (p.Gln258Ter) single nucleotide variant Malignant tumor of prostate [RCV000149096] Chr19:51746223 [GRCh38]
Chr19:52249476 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.41(chr19:51681235-51936423)x3 copy number gain See cases [RCV000138486] Chr19:51681235..51936423 [GRCh38]
Chr19:52184488..52439676 [GRCh37]
Chr19:56876300..57131488 [NCBI36]
Chr19:19q13.41
likely benign
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 copy number gain See cases [RCV000143450] Chr19:51202361..51993020 [GRCh38]
Chr19:51705617..52496273 [GRCh37]
Chr19:56397429..57188085 [NCBI36]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.488G>A (p.Arg163His) single nucleotide variant FPR1-related disorder [RCV003915486]|Gingival disorder [RCV002231004]|not provided [RCV004717651] Chr19:51746507 [GRCh38]
Chr19:52249760 [GRCh37]
Chr19:19q13.41
benign|likely benign
GRCh37/hg19 19q13.41(chr19:52225767-52356791)x3 copy number gain not provided [RCV000752747] Chr19:52225767..52356791 [GRCh37]
Chr19:19q13.41
benign
GRCh37/hg19 19q13.41(chr19:52227916-52359169)x3 copy number gain not provided [RCV000752748] Chr19:52227916..52359169 [GRCh37]
Chr19:19q13.41
benign
GRCh37/hg19 19q13.41(chr19:52224551-52328897)x3 copy number gain See cases [RCV000447378] Chr19:52224551..52328897 [GRCh37]
Chr19:19q13.41
benign
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_002029.4(FPR1):c.993C>T (p.Thr331=) single nucleotide variant Gingival disorder [RCV002230301]|not provided [RCV004717605]|not specified [RCV000454608] Chr19:51746002 [GRCh38]
Chr19:52249255 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.301G>C (p.Val101Leu) single nucleotide variant Gingival disorder [RCV002230084]|not provided [RCV001824774]|not specified [RCV000455030] Chr19:51746694 [GRCh38]
Chr19:51746694..51746695 [GRCh38]
Chr19:52249947 [GRCh37]
Chr19:52249947..52249948 [GRCh37]
Chr19:19q13.41
benign|not provided
NM_002029.4(FPR1):c.576T>G (p.Asn192Lys) single nucleotide variant Gingival disorder [RCV002230302]|not provided [RCV001618691]|not specified [RCV000455271] Chr19:51746419 [GRCh38]
Chr19:52249672 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr) single nucleotide variant Gingival disorder [RCV002230304]|not provided [RCV001824775]|not specified [RCV000455423] Chr19:51746963 [GRCh38]
Chr19:52250216 [GRCh37]
Chr19:19q13.41
benign|not provided
NM_002029.4(FPR1):c.546C>A (p.Pro182=) single nucleotide variant Gingival disorder [RCV002230303]|not provided [RCV001824773]|not specified [RCV000456043] Chr19:51746449 [GRCh38]
Chr19:52249702 [GRCh37]
Chr19:19q13.41
benign|not provided
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala) single nucleotide variant Gingival disorder [RCV002230300]|not provided [RCV001824772]|not specified [RCV000456087] Chr19:51745958 [GRCh38]
Chr19:52249211 [GRCh37]
Chr19:19q13.41
benign|not provided
NM_002029.4(FPR1):c.1037_1038delinsCA (p.Glu346Ala) indel Gingival disorder [RCV002528851] Chr19:51745957..51745958 [GRCh38]
Chr19:52249210..52249211 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.806G>A (p.Arg269His) single nucleotide variant FPR1-related disorder [RCV003905688]|Gingival disorder [RCV002233923] Chr19:51746189 [GRCh38]
Chr19:52249442 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.674C>T (p.Ala225Val) single nucleotide variant Gingival disorder [RCV002234399]|not specified [RCV004025395] Chr19:51746321 [GRCh38]
Chr19:52249574 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.306T>C (p.Phe102=) single nucleotide variant Gingival disorder [RCV002231221]|not provided [RCV004717649] Chr19:51746689 [GRCh38]
Chr19:52249942 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.827A>G (p.Tyr276Cys) single nucleotide variant Gingival disorder [RCV002234398] Chr19:51746168 [GRCh38]
Chr19:52249421 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_002029.4(FPR1):c.622A>T (p.Ile208Phe) single nucleotide variant not specified [RCV004310763] Chr19:51746373 [GRCh38]
Chr19:52249626 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_002029.4(FPR1):c.117C>T (p.Leu39=) single nucleotide variant Gingival disorder [RCV002234400]|not provided [RCV004717692] Chr19:51746878 [GRCh38]
Chr19:52250131 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.177C>T (p.Val59=) single nucleotide variant Gingival disorder [RCV002231219]|not provided [RCV004717648] Chr19:51746818 [GRCh38]
Chr19:52250071 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.380T>C (p.Val127Ala) single nucleotide variant not specified [RCV004298738] Chr19:51746615 [GRCh38]
Chr19:52249868 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.289C>A (p.Leu97Met) single nucleotide variant FPR1-related disorder [RCV003935753]|Gingival disorder [RCV002233924]|not provided [RCV004717694] Chr19:51746706 [GRCh38]
Chr19:52249959 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.645C>T (p.Ser215=) single nucleotide variant FPR1-related disorder [RCV003905689]|Gingival disorder [RCV002234401]|not provided [RCV004717693] Chr19:51746350 [GRCh38]
Chr19:52249603 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.534T>A (p.Phe178Leu) single nucleotide variant Periodontitis [RCV000686521] Chr19:51746461 [GRCh38]
Chr19:52249714 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.805C>T (p.Arg269Cys) single nucleotide variant Gingival disorder [RCV002233642] Chr19:51746190 [GRCh38]
Chr19:52249443 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.409C>T (p.Arg137Cys) single nucleotide variant Gingival disorder [RCV002233629] Chr19:51746586 [GRCh38]
Chr19:52249839 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.934C>T (p.Leu312=) single nucleotide variant Gingival disorder [RCV002240323] Chr19:51746061 [GRCh38]
Chr19:52249314 [GRCh37]
Chr19:19q13.41
likely benign|uncertain significance
GRCh37/hg19 19q13.41(chr19:52152017-52299885)x3 copy number gain not provided [RCV000752746] Chr19:52152017..52299885 [GRCh37]
Chr19:19q13.41
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_002029.4(FPR1):c.705G>A (p.Lys235=) single nucleotide variant Gingival disorder [RCV002235823] Chr19:51746290 [GRCh38]
Chr19:52249543 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.368G>A (p.Arg123His) single nucleotide variant FPR1-related disorder [RCV003928434]|Gingival disorder [RCV002235847]|not provided [RCV001529734] Chr19:51746627 [GRCh38]
Chr19:52249880 [GRCh37]
Chr19:19q13.41
likely benign|uncertain significance
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_002029.4(FPR1):c.952G>A (p.Ala318Thr) single nucleotide variant Gingival disorder [RCV002239335] Chr19:51746043 [GRCh38]
Chr19:52249296 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.440T>C (p.Ile147Thr) single nucleotide variant Gingival disorder [RCV002239346]|not provided [RCV003490023] Chr19:51746555 [GRCh38]
Chr19:52249808 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.822C>T (p.Gly274=) single nucleotide variant FPR1-related disorder [RCV003930635]|Gingival disorder [RCV002236048]|not provided [RCV004717727] Chr19:51746173 [GRCh38]
Chr19:52249426 [GRCh37]
Chr19:19q13.41
benign|likely benign
NM_002029.4(FPR1):c.582C>T (p.Ala194=) single nucleotide variant Gingival disorder [RCV002235612] Chr19:51746413 [GRCh38]
Chr19:52249666 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.274C>A (p.Pro92Thr) single nucleotide variant Gingival disorder [RCV002235030]|not specified [RCV004028779] Chr19:51746721 [GRCh38]
Chr19:52249974 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.205G>A (p.Val69Met) single nucleotide variant Gingival disorder [RCV002235094]|not specified [RCV004028907] Chr19:51746790 [GRCh38]
Chr19:52250043 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.198C>A (p.Asn66Lys) single nucleotide variant Gingival disorder [RCV003596609] Chr19:51746797 [GRCh38]
Chr19:52250050 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.542C>T (p.Ser181Leu) single nucleotide variant Gingival disorder [RCV002235101] Chr19:51746453 [GRCh38]
Chr19:52249706 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.439A>G (p.Ile147Val) single nucleotide variant Gingival disorder [RCV002235535] Chr19:51746556 [GRCh38]
Chr19:52249809 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.379G>A (p.Val127Ile) single nucleotide variant Gingival disorder [RCV002235323] Chr19:51746616 [GRCh38]
Chr19:52249869 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.559C>T (p.Pro187Ser) single nucleotide variant Gingival disorder [RCV002233855]|not specified [RCV004027451] Chr19:51746436 [GRCh38]
Chr19:52249689 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.607A>G (p.Ile203Val) single nucleotide variant Gingival disorder [RCV002235844] Chr19:51746388 [GRCh38]
Chr19:52249641 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.710G>A (p.Ser237Asn) single nucleotide variant Gingival disorder [RCV002233871] Chr19:51746285 [GRCh38]
Chr19:52249538 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.511A>C (p.Thr171Pro) single nucleotide variant Gingival disorder [RCV002234904] Chr19:51746484 [GRCh38]
Chr19:52249737 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.721C>T (p.Arg241Trp) single nucleotide variant Gingival disorder [RCV002241058] Chr19:51746274 [GRCh38]
Chr19:52249527 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.160C>T (p.Arg54Trp) single nucleotide variant Gingival disorder [RCV002241628] Chr19:51746835 [GRCh38]
Chr19:52250088 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.943G>A (p.Ala315Thr) single nucleotide variant Gingival disorder [RCV002241459] Chr19:51746052 [GRCh38]
Chr19:52249305 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.497C>T (p.Thr166Ile) single nucleotide variant Gingival disorder [RCV002563987] Chr19:51746498 [GRCh38]
Chr19:52249751 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.634G>A (p.Ala212Thr) single nucleotide variant Gingival disorder [RCV002241504] Chr19:51746361 [GRCh38]
Chr19:52249614 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.664G>A (p.Gly222Arg) single nucleotide variant Periodontitis [RCV001223564] Chr19:51746331 [GRCh38]
Chr19:52249584 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.722G>A (p.Arg241Gln) single nucleotide variant Gingival disorder [RCV002241289] Chr19:51746273 [GRCh38]
Chr19:52249526 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.823A>G (p.Met275Val) single nucleotide variant Gingival disorder [RCV002241311] Chr19:51746172 [GRCh38]
Chr19:52249425 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.570G>C (p.Arg190Ser) single nucleotide variant Gingival disorder [RCV002240490] Chr19:51746425 [GRCh38]
Chr19:52249678 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.744A>C (p.Ala248=) single nucleotide variant Gingival disorder [RCV002235489]|not provided [RCV004704272] Chr19:51746251 [GRCh38]
Chr19:52249504 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.613C>T (p.Arg205Trp) single nucleotide variant Gingival disorder [RCV002240265] Chr19:51746382 [GRCh38]
Chr19:52249635 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.826T>C (p.Tyr276His) single nucleotide variant Gingival disorder [RCV002240341] Chr19:51746169 [GRCh38]
Chr19:52249422 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.596C>T (p.Thr199Met) single nucleotide variant Gingival disorder [RCV002241128] Chr19:51746399 [GRCh38]
Chr19:52249652 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.331G>A (p.Gly111Arg) single nucleotide variant Gingival disorder [RCV002240536] Chr19:51746664 [GRCh38]
Chr19:52249917 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.40G>A (p.Gly14Arg) single nucleotide variant Gingival disorder [RCV002239298] Chr19:51746955 [GRCh38]
Chr19:52250208 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.955A>C (p.Ser319Arg) single nucleotide variant Gingival disorder [RCV002240319] Chr19:51746040 [GRCh38]
Chr19:52249293 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp) single nucleotide variant Gingival disorder [RCV002239272]|N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM [RCV001035430]|not provided [RCV001655668] Chr19:51746427 [GRCh38]
Chr19:52249680 [GRCh37]
Chr19:19q13.41
benign
NM_002029.4(FPR1):c.79A>G (p.Ile27Val) single nucleotide variant Gingival disorder [RCV002239358] Chr19:51746916 [GRCh38]
Chr19:52250169 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.654T>A (p.Ala218=) single nucleotide variant Gingival disorder [RCV002240973] Chr19:51746341 [GRCh38]
Chr19:52249594 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.736G>T (p.Val246Phe) single nucleotide variant Gingival disorder [RCV002237134] Chr19:51746259 [GRCh38]
Chr19:52249512 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.919G>A (p.Asp307Asn) single nucleotide variant Gingival disorder [RCV002241487] Chr19:51746076 [GRCh38]
Chr19:52249329 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.713G>A (p.Arg238His) single nucleotide variant Gingival disorder [RCV002240186] Chr19:51746282 [GRCh38]
Chr19:52249535 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.898C>G (p.Leu300Val) single nucleotide variant Gingival disorder [RCV002239274] Chr19:51746097 [GRCh38]
Chr19:52249350 [GRCh37]
Chr19:19q13.41
uncertain significance
NC_000019.10:g.(?_51745922)_(51759909_?)dup duplication Periodontitis [RCV001032008] Chr19:52249175..52263162 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
NM_002029.4(FPR1):c.751T>C (p.Phe251Leu) single nucleotide variant Gingival disorder [RCV002241585] Chr19:51746244 [GRCh38]
Chr19:52249497 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic
NM_002029.4(FPR1):c.121G>A (p.Val41Ile) single nucleotide variant Gingival disorder [RCV002242286] Chr19:51746874 [GRCh38]
Chr19:52250127 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.926G>A (p.Arg309Gln) single nucleotide variant Gingival disorder [RCV002242470] Chr19:51746069 [GRCh38]
Chr19:52249322 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.80T>A (p.Ile27Asn) single nucleotide variant Gingival disorder [RCV002242267] Chr19:51746915 [GRCh38]
Chr19:52250168 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.824T>C (p.Met275Thr) single nucleotide variant Gingival disorder [RCV002242167] Chr19:51746171 [GRCh38]
Chr19:52249424 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.553A>G (p.Asn185Asp) single nucleotide variant Gingival disorder [RCV002243074] Chr19:51746442 [GRCh38]
Chr19:52249695 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.204C>T (p.Ala68=) single nucleotide variant Gingival disorder [RCV002242933] Chr19:51746791 [GRCh38]
Chr19:52250044 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.407A>C (p.His136Pro) single nucleotide variant Gingival disorder [RCV002242582] Chr19:51746588 [GRCh38]
Chr19:52249841 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.976G>A (p.Glu326Lys) single nucleotide variant Gingival disorder [RCV002241875] Chr19:51746019 [GRCh38]
Chr19:52249272 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.942C>T (p.His314=) single nucleotide variant Gingival disorder [RCV002240883] Chr19:51746053 [GRCh38]
Chr19:52249306 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.27G>A (p.Thr9=) single nucleotide variant Gingival disorder [RCV002240295] Chr19:51746968 [GRCh38]
Chr19:52250221 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.726C>T (p.Val242=) single nucleotide variant Gingival disorder [RCV002243024] Chr19:51746269 [GRCh38]
Chr19:52249522 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.954C>G (p.Ala318=) single nucleotide variant Gingival disorder [RCV002240596] Chr19:51746041 [GRCh38]
Chr19:52249294 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.390A>G (p.Pro130=) single nucleotide variant Gingival disorder [RCV002240269] Chr19:51746605 [GRCh38]
Chr19:52249858 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.474G>A (p.Leu158=) single nucleotide variant Gingival disorder [RCV002237162] Chr19:51746521 [GRCh38]
Chr19:52249774 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.378C>T (p.Cys126=) single nucleotide variant Gingival disorder [RCV002243057] Chr19:51746617 [GRCh38]
Chr19:52249870 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.969C>T (p.Ala323=) single nucleotide variant Gingival disorder [RCV002242972] Chr19:51746026 [GRCh38]
Chr19:52249279 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.30C>T (p.Asn10=) single nucleotide variant Gingival disorder [RCV002237179] Chr19:51746965 [GRCh38]
Chr19:52250218 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.618C>T (p.Phe206=) single nucleotide variant Gingival disorder [RCV002243131] Chr19:51746377 [GRCh38]
Chr19:52249630 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.453G>A (p.Val151=) single nucleotide variant Gingival disorder [RCV002242938] Chr19:51746542 [GRCh38]
Chr19:52249795 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.84C>T (p.Ile28=) single nucleotide variant Gingival disorder [RCV002243107] Chr19:51746911 [GRCh38]
Chr19:52250164 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.42G>A (p.Gly14=) single nucleotide variant Gingival disorder [RCV002240290] Chr19:51746953 [GRCh38]
Chr19:52250206 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.957T>C (p.Ser319=) single nucleotide variant Gingival disorder [RCV002240275] Chr19:51746038 [GRCh38]
Chr19:52249291 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.858A>G (p.Thr286=) single nucleotide variant FPR1-related disorder [RCV003948420]|Gingival disorder [RCV002240708] Chr19:51746137 [GRCh38]
Chr19:52249390 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.27G>C (p.Thr9=) single nucleotide variant Gingival disorder [RCV002236171] Chr19:51746968 [GRCh38]
Chr19:52250221 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.1044G>A (p.Gln348=) single nucleotide variant Gingival disorder [RCV002240430] Chr19:51745951 [GRCh38]
Chr19:52249204 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.738C>T (p.Val246=) single nucleotide variant Gingival disorder [RCV002240447] Chr19:51746257 [GRCh38]
Chr19:52249510 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.21C>G (p.Leu7=) single nucleotide variant Gingival disorder [RCV002239427] Chr19:51746974 [GRCh38]
Chr19:52250227 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.381C>T (p.Val127=) single nucleotide variant Gingival disorder [RCV002240663] Chr19:51746614 [GRCh38]
Chr19:52249867 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.300C>T (p.Phe100=) single nucleotide variant Gingival disorder [RCV002241006] Chr19:51746695 [GRCh38]
Chr19:52249948 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.639C>T (p.Pro213=) single nucleotide variant Gingival disorder [RCV002241020]|not provided [RCV004704627] Chr19:51746356 [GRCh38]
Chr19:52249609 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.189T>C (p.Ser63=) single nucleotide variant Gingival disorder [RCV002236354] Chr19:51746806 [GRCh38]
Chr19:52250059 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.439A>T (p.Ile147Phe) single nucleotide variant Gingival disorder [RCV002237151] Chr19:51746556 [GRCh38]
Chr19:52249809 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.472T>C (p.Leu158=) single nucleotide variant Gingival disorder [RCV002241028] Chr19:51746523 [GRCh38]
Chr19:52249776 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.513G>A (p.Thr171=) single nucleotide variant Gingival disorder [RCV002241173] Chr19:51746482 [GRCh38]
Chr19:52249735 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.576T>C (p.Asn192=) single nucleotide variant Gingival disorder [RCV002241361]|not provided [RCV001824979] Chr19:51746419 [GRCh38]
Chr19:52249672 [GRCh37]
Chr19:19q13.41
benign|not provided
NM_002029.4(FPR1):c.330C>T (p.Phe110=) single nucleotide variant Gingival disorder [RCV002236360] Chr19:51746665 [GRCh38]
Chr19:52249918 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.564A>G (p.Lys188=) single nucleotide variant Gingival disorder [RCV002240699] Chr19:51746431 [GRCh38]
Chr19:52249684 [GRCh37]
Chr19:19q13.41
likely benign
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 copy number gain not provided [RCV001827892] Chr19:51769834..52415762 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.456G>A (p.Met152Ile) single nucleotide variant Gingival disorder [RCV002039306] Chr19:51746539 [GRCh38]
Chr19:52249792 [GRCh37]
Chr19:19q13.41
uncertain significance
NC_000019.9:g.(?_52249195)_(52250247_?)dup duplication Gingival disorder [RCV002020597] Chr19:52249195..52250247 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.487C>T (p.Arg163Cys) single nucleotide variant Gingival disorder [RCV002022574] Chr19:51746508 [GRCh38]
Chr19:52249761 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41
likely pathogenic
NM_002029.4(FPR1):c.623T>C (p.Ile208Thr) single nucleotide variant Gingival disorder [RCV001947108] Chr19:51746372 [GRCh38]
Chr19:52249625 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.257C>T (p.Ala86Val) single nucleotide variant Gingival disorder [RCV002021212] Chr19:51746738 [GRCh38]
Chr19:52249991 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.272G>A (p.Trp91Ter) single nucleotide variant Gingival disorder [RCV001984392] Chr19:51746723 [GRCh38]
Chr19:52249976 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.476C>G (p.Pro159Arg) single nucleotide variant Gingival disorder [RCV001904956] Chr19:51746519 [GRCh38]
Chr19:52249772 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.301G>A (p.Val101Ile) single nucleotide variant Gingival disorder [RCV002038943] Chr19:51746694 [GRCh38]
Chr19:52249947 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.556G>A (p.Asp186Asn) single nucleotide variant Gingival disorder [RCV001887401] Chr19:51746439 [GRCh38]
Chr19:52249692 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.707C>G (p.Ser236Cys) single nucleotide variant Gingival disorder [RCV002037563] Chr19:51746288 [GRCh38]
Chr19:52249541 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.1016C>T (p.Thr339Ile) single nucleotide variant Gingival disorder [RCV002000260] Chr19:51745979 [GRCh38]
Chr19:52249232 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.466C>T (p.Leu156Phe) single nucleotide variant Gingival disorder [RCV001920826] Chr19:51746529 [GRCh38]
Chr19:52249782 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.161G>A (p.Arg54Gln) single nucleotide variant Gingival disorder [RCV001905188] Chr19:51746834 [GRCh38]
Chr19:52250087 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.367C>T (p.Arg123Cys) single nucleotide variant Gingival disorder [RCV001922654] Chr19:51746628 [GRCh38]
Chr19:52249881 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.512C>T (p.Thr171Met) single nucleotide variant Gingival disorder [RCV001906002]|not specified [RCV004041418] Chr19:51746483 [GRCh38]
Chr19:52249736 [GRCh37]
Chr19:19q13.41
likely benign|uncertain significance
NM_002029.4(FPR1):c.139G>T (p.Val47Leu) single nucleotide variant Gingival disorder [RCV001952305] Chr19:51746856 [GRCh38]
Chr19:52250109 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.275C>T (p.Pro92Leu) single nucleotide variant Gingival disorder [RCV001933254] Chr19:51746720 [GRCh38]
Chr19:52249973 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.851A>G (p.Asp284Gly) single nucleotide variant Gingival disorder [RCV002014956] Chr19:51746144 [GRCh38]
Chr19:52249397 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.758G>T (p.Cys253Phe) single nucleotide variant Gingival disorder [RCV002017587] Chr19:51746237 [GRCh38]
Chr19:52249490 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.445C>T (p.Pro149Ser) single nucleotide variant Gingival disorder [RCV001920168]|not specified [RCV004616846] Chr19:51746550 [GRCh38]
Chr19:52249803 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.821G>C (p.Gly274Ala) single nucleotide variant Gingival disorder [RCV001899217] Chr19:51746174 [GRCh38]
Chr19:52249427 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.652G>T (p.Ala218Ser) single nucleotide variant Gingival disorder [RCV002014626] Chr19:51746343 [GRCh38]
Chr19:52249596 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.555C>T (p.Asn185=) single nucleotide variant Gingival disorder [RCV002091140] Chr19:51746440 [GRCh38]
Chr19:52249693 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.447C>T (p.Pro149=) single nucleotide variant Gingival disorder [RCV002090389] Chr19:51746548 [GRCh38]
Chr19:52249801 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.12T>C (p.Asn4=) single nucleotide variant Gingival disorder [RCV002170174] Chr19:51746983 [GRCh38]
Chr19:52250236 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.528C>T (p.Cys176=) single nucleotide variant Gingival disorder [RCV002112250] Chr19:51746467 [GRCh38]
Chr19:52249720 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.156A>T (p.Gly52=) single nucleotide variant Gingival disorder [RCV002096200] Chr19:51746839 [GRCh38]
Chr19:52250092 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.486T>C (p.Ile162=) single nucleotide variant Gingival disorder [RCV002166174] Chr19:51746509 [GRCh38]
Chr19:52249762 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.543G>A (p.Ser181=) single nucleotide variant Gingival disorder [RCV002216355] Chr19:51746452 [GRCh38]
Chr19:52249705 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.975C>G (p.Thr325=) single nucleotide variant Gingival disorder [RCV002078779] Chr19:51746020 [GRCh38]
Chr19:52249273 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.414C>T (p.Thr138=) single nucleotide variant Gingival disorder [RCV002149147] Chr19:51746581 [GRCh38]
Chr19:52249834 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.132C>T (p.Asn44=) single nucleotide variant Gingival disorder [RCV002135920] Chr19:51746863 [GRCh38]
Chr19:52250116 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.519A>T (p.Thr173=) single nucleotide variant Gingival disorder [RCV002201995] Chr19:51746476 [GRCh38]
Chr19:52249729 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.339C>A (p.Val113=) single nucleotide variant Gingival disorder [RCV002122150] Chr19:51746656 [GRCh38]
Chr19:52249909 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.682A>T (p.Ile228Phe) single nucleotide variant Gingival disorder [RCV003115321] Chr19:51746313 [GRCh38]
Chr19:52249566 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.133G>A (p.Gly45Arg) single nucleotide variant Gingival disorder [RCV003112099] Chr19:51746862 [GRCh38]
Chr19:52250115 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.465C>T (p.Leu155=) single nucleotide variant Gingival disorder [RCV003115790] Chr19:51746530 [GRCh38]
Chr19:52249783 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.144C>G (p.Ile48Met) single nucleotide variant Gingival disorder [RCV002298332] Chr19:51746851 [GRCh38]
Chr19:52250104 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.589A>G (p.Met197Val) single nucleotide variant Gingival disorder [RCV002301824] Chr19:51746406 [GRCh38]
Chr19:52249659 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.396del (p.Val131_Trp132insTer) deletion Gingival disorder [RCV002880471] Chr19:51746599 [GRCh38]
Chr19:52249852 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.470C>T (p.Thr157Ile) single nucleotide variant not specified [RCV004139833] Chr19:51746525 [GRCh38]
Chr19:52249778 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.583G>A (p.Val195Ile) single nucleotide variant Gingival disorder [RCV002994866] Chr19:51746412 [GRCh38]
Chr19:52249665 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.876C>T (p.Phe292=) single nucleotide variant Gingival disorder [RCV002858710] Chr19:51746119 [GRCh38]
Chr19:52249372 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.52G>A (p.Val18Ile) single nucleotide variant Gingival disorder [RCV002908358] Chr19:51746943 [GRCh38]
Chr19:52250196 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.775G>A (p.Val259Met) single nucleotide variant Gingival disorder [RCV002794937] Chr19:51746220 [GRCh38]
Chr19:52249473 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.723G>T (p.Arg241=) single nucleotide variant Gingival disorder [RCV002775075] Chr19:51746272 [GRCh38]
Chr19:52249525 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.541T>C (p.Ser181Pro) single nucleotide variant Gingival disorder [RCV002995714] Chr19:51746454 [GRCh38]
Chr19:52249707 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.408C>T (p.His136=) single nucleotide variant Gingival disorder [RCV003075961] Chr19:51746587 [GRCh38]
Chr19:52249840 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.268C>T (p.His90Tyr) single nucleotide variant Gingival disorder [RCV003081568] Chr19:51746727 [GRCh38]
Chr19:52249980 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.118G>A (p.Gly40Arg) single nucleotide variant Gingival disorder [RCV002786114] Chr19:51746877 [GRCh38]
Chr19:52250130 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.211dup (p.Asp71fs) duplication Gingival disorder [RCV002824851] Chr19:51746783..51746784 [GRCh38]
Chr19:52250036..52250037 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.696C>G (p.Gly232=) single nucleotide variant Gingival disorder [RCV002998791] Chr19:51746299 [GRCh38]
Chr19:52249552 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.902A>G (p.Tyr301Cys) single nucleotide variant not specified [RCV004102008] Chr19:51746093 [GRCh38]
Chr19:52249346 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.914G>T (p.Gly305Val) single nucleotide variant Gingival disorder [RCV003079987] Chr19:51746081 [GRCh38]
Chr19:52249334 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.1008C>A (p.Thr336=) single nucleotide variant Gingival disorder [RCV002975965] Chr19:51745987 [GRCh38]
Chr19:52249240 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.506G>A (p.Gly169Asp) single nucleotide variant Gingival disorder [RCV002620980] Chr19:51746489 [GRCh38]
Chr19:52249742 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.415G>A (p.Val139Met) single nucleotide variant Gingival disorder [RCV002957971] Chr19:51746580 [GRCh38]
Chr19:52249833 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.648C>T (p.Ile216=) single nucleotide variant Gingival disorder [RCV002786194] Chr19:51746347 [GRCh38]
Chr19:52249600 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.283T>G (p.Trp95Gly) single nucleotide variant not specified [RCV004113082] Chr19:51746712 [GRCh38]
Chr19:52249965 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.982T>C (p.Ser328Pro) single nucleotide variant Gingival disorder [RCV003068619]|not specified [RCV004070451] Chr19:51746013 [GRCh38]
Chr19:52249266 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.591G>A (p.Met197Ile) single nucleotide variant Gingival disorder [RCV002602621]|not specified [RCV004068779] Chr19:51746404 [GRCh38]
Chr19:52249657 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.349G>A (p.Ala117Thr) single nucleotide variant Gingival disorder [RCV003090594] Chr19:51746646 [GRCh38]
Chr19:52249899 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.245T>C (p.Met82Thr) single nucleotide variant Gingival disorder [RCV002938829] Chr19:51746750 [GRCh38]
Chr19:52250003 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.185T>A (p.Ile62Asn) single nucleotide variant Gingival disorder [RCV003090161] Chr19:51746810 [GRCh38]
Chr19:52250063 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.752T>A (p.Phe251Tyr) single nucleotide variant Gingival disorder [RCV002811294] Chr19:51746243 [GRCh38]
Chr19:52249496 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.646A>G (p.Ile216Val) single nucleotide variant Gingival disorder [RCV002966373]|not specified [RCV004068127] Chr19:51746349 [GRCh38]
Chr19:52249602 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.960G>A (p.Leu320=) single nucleotide variant Gingival disorder [RCV002835158] Chr19:51746035 [GRCh38]
Chr19:52249288 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.1008C>T (p.Thr336=) single nucleotide variant Gingival disorder [RCV003026308] Chr19:51745987 [GRCh38]
Chr19:52249240 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.726C>A (p.Val242=) single nucleotide variant FPR1-related disorder [RCV003898635]|Gingival disorder [RCV002943690] Chr19:51746269 [GRCh38]
Chr19:52249522 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.279C>T (p.Phe93=) single nucleotide variant Gingival disorder [RCV002942460] Chr19:51746716 [GRCh38]
Chr19:52249969 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.284G>T (p.Trp95Leu) single nucleotide variant Gingival disorder [RCV002611677] Chr19:51746711 [GRCh38]
Chr19:52249964 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.443G>A (p.Gly148Glu) single nucleotide variant not provided [RCV003228149] Chr19:51746552 [GRCh38]
Chr19:52249805 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.436A>G (p.Ile146Val) single nucleotide variant Gingival disorder [RCV003874409]|not specified [RCV004369630] Chr19:51746559 [GRCh38]
Chr19:52249812 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.554A>G (p.Asn185Ser) single nucleotide variant Gingival disorder [RCV003874421] Chr19:51746441 [GRCh38]
Chr19:52249694 [GRCh37]
Chr19:19q13.41
uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43
likely pathogenic
NM_002029.4(FPR1):c.350C>T (p.Ala117Val) single nucleotide variant Gingival disorder [RCV003882470] Chr19:51746645 [GRCh38]
Chr19:52249898 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.77A>C (p.Asp26Ala) single nucleotide variant Gingival disorder [RCV003597014] Chr19:51746918 [GRCh38]
Chr19:52250171 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.829A>C (p.Lys277Gln) single nucleotide variant Gingival disorder [RCV003763356] Chr19:51746166 [GRCh38]
Chr19:52249419 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.443G>C (p.Gly148Ala) single nucleotide variant Gingival disorder [RCV003763457] Chr19:51746552 [GRCh38]
Chr19:52249805 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.69C>T (p.Leu23=) single nucleotide variant Gingival disorder [RCV003596425] Chr19:51746926 [GRCh38]
Chr19:52250179 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.352C>G (p.Leu118Val) single nucleotide variant Gingival disorder [RCV003596803] Chr19:51746643 [GRCh38]
Chr19:52249896 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.333A>G (p.Gly111=) single nucleotide variant Gingival disorder [RCV003764224] Chr19:51746662 [GRCh38]
Chr19:52249915 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.258C>T (p.Ala86=) single nucleotide variant Gingival disorder [RCV003596984] Chr19:51746737 [GRCh38]
Chr19:52249990 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.208G>A (p.Ala70Thr) single nucleotide variant Gingival disorder [RCV003596407] Chr19:51746787 [GRCh38]
Chr19:52250040 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.77A>G (p.Asp26Gly) single nucleotide variant Gingival disorder [RCV003855710] Chr19:51746918 [GRCh38]
Chr19:52250171 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.15C>T (p.Ser5=) single nucleotide variant Gingival disorder [RCV003762656] Chr19:51746980 [GRCh38]
Chr19:52250233 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.17C>T (p.Ser6Phe) single nucleotide variant Gingival disorder [RCV003596432] Chr19:51746978 [GRCh38]
Chr19:52250231 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.44C>A (p.Thr15Lys) single nucleotide variant Gingival disorder [RCV003762275] Chr19:51746951 [GRCh38]
Chr19:52250204 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.624T>C (p.Ile208=) single nucleotide variant Gingival disorder [RCV003762351] Chr19:51746371 [GRCh38]
Chr19:52249624 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.853G>A (p.Val285Met) single nucleotide variant Gingival disorder [RCV003764384] Chr19:51746142 [GRCh38]
Chr19:52249395 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.918G>A (p.Gln306=) single nucleotide variant Gingival disorder [RCV003763506] Chr19:51746077 [GRCh38]
Chr19:52249330 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.484A>G (p.Ile162Val) single nucleotide variant Gingival disorder [RCV003763515] Chr19:51746511 [GRCh38]
Chr19:52249764 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.642G>A (p.Met214Ile) single nucleotide variant Gingival disorder [RCV003762520] Chr19:51746353 [GRCh38]
Chr19:52249606 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.410G>A (p.Arg137His) single nucleotide variant Gingival disorder [RCV003763476] Chr19:51746585 [GRCh38]
Chr19:52249838 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.56C>G (p.Ser19Cys) single nucleotide variant Gingival disorder [RCV003762326] Chr19:51746939 [GRCh38]
Chr19:52250192 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.641T>G (p.Met214Arg) single nucleotide variant Gingival disorder [RCV003762474] Chr19:51746354 [GRCh38]
Chr19:52249607 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.841A>G (p.Ile281Val) single nucleotide variant Gingival disorder [RCV003763643] Chr19:51746154 [GRCh38]
Chr19:52249407 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.444G>T (p.Gly148=) single nucleotide variant Gingival disorder [RCV003596768] Chr19:51746551 [GRCh38]
Chr19:52249804 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.1015A>G (p.Thr339Ala) single nucleotide variant Gingival disorder [RCV003762666] Chr19:51745980 [GRCh38]
Chr19:52249233 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.1010A>G (p.Asn337Ser) single nucleotide variant Gingival disorder [RCV003762276] Chr19:51745985 [GRCh38]
Chr19:52249238 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.244A>G (p.Met82Val) single nucleotide variant Gingival disorder [RCV003763531] Chr19:51746751 [GRCh38]
Chr19:52250004 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.739G>A (p.Ala247Thr) single nucleotide variant Gingival disorder [RCV003596451] Chr19:51746256 [GRCh38]
Chr19:52249509 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.144C>T (p.Ile48=) single nucleotide variant Gingival disorder [RCV003596983] Chr19:51746851 [GRCh38]
Chr19:52250104 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.524C>T (p.Ala175Val) single nucleotide variant FPR1-related disorder [RCV004757611]|Gingival disorder [RCV003764389] Chr19:51746471 [GRCh38]
Chr19:52249724 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.897G>A (p.Met299Ile) single nucleotide variant Gingival disorder [RCV003846913] Chr19:51746098 [GRCh38]
Chr19:52249351 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.346A>T (p.Ile116Phe) single nucleotide variant Gingival disorder [RCV003870699] Chr19:51746649 [GRCh38]
Chr19:52249902 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.405C>T (p.Asn135=) single nucleotide variant Gingival disorder [RCV003868914] Chr19:51746590 [GRCh38]
Chr19:52249843 [GRCh37]
Chr19:19q13.41
likely benign
NM_002029.4(FPR1):c.139G>A (p.Val47Met) single nucleotide variant Gingival disorder [RCV003844329] Chr19:51746856 [GRCh38]
Chr19:52250109 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.548G>A (p.Trp183Ter) single nucleotide variant Gingival disorder [RCV003840848] Chr19:51746447 [GRCh38]
Chr19:52249700 [GRCh37]
Chr19:19q13.41
uncertain significance
NM_002029.4(FPR1):c.1038G>A (p.Glu346=) single nucleotide variant FPR1-related disorder [RCV003924053] Chr19:51745957 [GRCh38]
Chr19:52249210 [GRCh37]
Chr19:19q13.41
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:910
Count of miRNA genes:471
Interacting mature miRNAs:510
Transcripts:ENST00000304748, ENST00000594900, ENST00000595042, ENST00000600815
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407301347GWAS950323_Hlymphocyte count QTL GWAS950323 (human)5e-10lymphocyte countblood lymphocyte count (CMO:0000031)195174669451746695Human
406933159GWAS582135_Hanxiety QTL GWAS582135 (human)4e-08anxiety195174913151749132Human
407167422GWAS816398_Hneutrophil measurement QTL GWAS816398 (human)3e-12neutrophil measurement195175085351750854Human
407253450GWAS902426_Hvaginal microbiome measurement QTL GWAS902426 (human)0.00001vaginal microbiome measurement195174573751745738Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH69009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,255,288 - 52,255,445UniSTSGRCh37
Build 361956,947,100 - 56,947,257RGDNCBI36
Celera1949,304,851 - 49,305,008RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,586,049 - 48,586,206UniSTS
GeneMap99-GB4 RH Map19276.48UniSTS
NCBI RH Map19576.1UniSTS
RH17955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,249,199 - 52,249,353UniSTSGRCh37
Build 361956,941,011 - 56,941,165RGDNCBI36
Celera1949,298,751 - 49,298,905RGD
Cytogenetic Map19q13.4UniSTS
HuRef1948,579,999 - 48,580,153UniSTS
GeneMap99-GB4 RH Map19276.9UniSTS
NCBI RH Map19576.1UniSTS
D19S1083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,249,040 - 52,249,140UniSTSGRCh37
Build 361956,940,852 - 56,940,952RGDNCBI36
Celera1949,298,593 - 49,298,692RGD
Cytogenetic Map19q13.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2413 2785 2241 4882 1717 2298 6 615 1567 456 2184 6891 6088 48 3728 1 840 1722 1574 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY301273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ016000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M37128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S39148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000304748   ⟹   ENSP00000302707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,745,773 - 51,751,878 (-)Ensembl
Ensembl Acc Id: ENST00000594900   ⟹   ENSP00000470750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,745,773 - 51,804,115 (-)Ensembl
Ensembl Acc Id: ENST00000595042   ⟹   ENSP00000471493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,745,172 - 51,751,893 (-)Ensembl
Ensembl Acc Id: ENST00000600815   ⟹   ENSP00000472936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,745,773 - 51,750,811 (-)Ensembl
RefSeq Acc Id: NM_001193306   ⟹   NP_001180235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,745,172 - 51,751,878 (-)NCBI
GRCh371952,249,023 - 52,255,150 (-)ENTREZGENE
HuRef1948,579,824 - 48,585,911 (-)ENTREZGENE
CHM1_11952,250,849 - 52,256,974 (-)NCBI
T2T-CHM13v2.01954,832,367 - 54,839,072 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002029   ⟹   NP_002020
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,745,773 - 51,751,878 (-)NCBI
GRCh371952,249,023 - 52,255,150 (-)ENTREZGENE
Build 361956,940,838 - 56,946,962 (-)NCBI Archive
HuRef1948,579,824 - 48,585,911 (-)ENTREZGENE
CHM1_11952,250,852 - 52,256,974 (-)NCBI
T2T-CHM13v2.01954,832,968 - 54,839,072 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001180235   ⟸   NM_001193306
- UniProtKB: Q86U52 (UniProtKB/Swiss-Prot),   Q7Z6A4 (UniProtKB/Swiss-Prot),   Q14939 (UniProtKB/Swiss-Prot),   Q9NS48 (UniProtKB/Swiss-Prot),   P21462 (UniProtKB/Swiss-Prot),   B2RC44 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002020   ⟸   NM_002029
- UniProtKB: Q86U52 (UniProtKB/Swiss-Prot),   Q7Z6A4 (UniProtKB/Swiss-Prot),   Q14939 (UniProtKB/Swiss-Prot),   Q9NS48 (UniProtKB/Swiss-Prot),   P21462 (UniProtKB/Swiss-Prot),   B2RC44 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000470750   ⟸   ENST00000594900
Ensembl Acc Id: ENSP00000471493   ⟸   ENST00000595042
Ensembl Acc Id: ENSP00000472936   ⟸   ENST00000600815
Ensembl Acc Id: ENSP00000302707   ⟸   ENST00000304748
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21462-F1-model_v2 AlphaFold P21462 1-350 view protein structure

Promoters
RGD ID:13205407
Promoter ID:EPDNEW_H26284
Type:initiation region
Name:FPR1_1
Description:formyl peptide receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,751,878 - 51,751,938EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3826 AgrOrtholog
COSMIC FPR1 COSMIC
Ensembl Genes ENSG00000171051 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304748 ENTREZGENE
  ENST00000304748.5 UniProtKB/Swiss-Prot
  ENST00000594900.1 UniProtKB/TrEMBL
  ENST00000594900.2 UniProtKB/Swiss-Prot
  ENST00000595042 ENTREZGENE
  ENST00000595042.5 UniProtKB/Swiss-Prot
  ENST00000600815.1 UniProtKB/TrEMBL
  ENST00000600815.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171051 GTEx
HGNC ID HGNC:3826 ENTREZGENE
Human Proteome Map FPR1 Human Proteome Map
InterPro Formyl_rcpt-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2357 UniProtKB/Swiss-Prot
NCBI Gene 2357 ENTREZGENE
OMIM 136537 OMIM
PANTHER FMET-LEU-PHE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28244 PharmGKB
PRINTS FMETLEUPHER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RC44 ENTREZGENE, UniProtKB/TrEMBL
  FPR1_HUMAN UniProtKB/Swiss-Prot
  M0QZT0_HUMAN UniProtKB/TrEMBL
  M0R315_HUMAN UniProtKB/TrEMBL
  P21462 ENTREZGENE
  Q14939 ENTREZGENE
  Q7Z6A4 ENTREZGENE
  Q86U52 ENTREZGENE
  Q9NS48 ENTREZGENE
UniProt Secondary Q14939 UniProtKB/Swiss-Prot
  Q7Z6A4 UniProtKB/Swiss-Prot
  Q86U52 UniProtKB/Swiss-Prot
  Q9NS48 UniProtKB/Swiss-Prot