F12 (coagulation factor XII) - Rat Genome Database
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Gene: F12 (coagulation factor XII) Homo sapiens
Analyze
Symbol: F12
Name: coagulation factor XII
RGD ID: 1345372
HGNC Page HGNC
Description: Exhibits serine-type endopeptidase activity. Involved in several processes, including positive regulation of protein processing; protein processing; and regulation of blood coagulation. Localizes to extracellular space. Implicated in angioedema (multiple); cerebrovascular disease (multiple); factor XII deficiency; and myocardial infarction. Biomarker of hereditary angioedema and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-factor XIIa part 1; beta-factor XIIa part 2; coagulation factor XII (Hageman factor); coagulation factor XIIa heavy chain; coagulation factor XIIa light chain; HAE3; HAEX; HAF; Hageman factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5177,402,140 - 177,409,576 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl5177,402,141 - 177,409,564 (-)EnsemblGRCh38hg38GRCh38
GRCh385177,402,138 - 177,409,564 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,829,139 - 176,836,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,761,745 - 176,769,183 (-)NCBINCBI36hg18NCBI36
Build 345176,761,746 - 176,769,183NCBI
Celera5171,664,877 - 171,672,315 (+)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,749,566 - 171,757,004 (-)NCBIHuRef
CHM1_15176,262,187 - 176,269,625 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
1. Bach J, etal., J Thromb Haemost. 2008 Feb;6(2):291-6. Epub 2007 Nov 15.
2. Bork K, etal., Clin Immunol. 2011 Oct;141(1):31-5. doi: 10.1016/j.clim.2011.07.002. Epub 2011 Jul 30.
3. Cugno M, etal., Blood. 1997 May 1;89(9):3213-8.
4. Dendrinos S, etal., J Reprod Med. 2014 Jan-Feb;59(1-2):56-62.
5. Dewald G and Bork K, Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9.
6. Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40.
7. Endler G, etal., J Thromb Haemost. 2007 Jun;5(6):1143-8.
8. Endler G, etal., Thromb Res. 2001 Feb 15;101(4):255-60.
9. Galanaud JP, etal., J Thromb Haemost. 2010 Apr;8(4):707-13. doi: 10.1111/j.1538-7836.2010.03770.x. Epub 2010 Feb 6.
10. GOA_HUMAN data from the GO Consortium
11. Kleinschnitz C, etal., J Exp Med. 2006 Mar 20;203(3):513-8. Epub 2006 Mar 13.
12. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
13. Kwon MJ, etal., Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df.
14. Miyata T, etal., Proc Natl Acad Sci U S A. 1989 Nov;86(21):8319-22.
15. Mordillo C, etal., Haematologica. 2007 Nov;92(11):1569-72.
16. Moreau ME, etal., J Pharmacol Sci. 2005 Sep;99(1):6-38.
17. Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101.
18. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
19. OMIM Disease Annotation Pipeline
20. Pipeline to import KEGG annotations from KEGG into RGD
21. Pipeline to import SMPDB annotations from SMPDB into RGD
22. Renne T, etal., J Exp Med. 2005 Jul 18;202(2):271-81. Epub 2005 Jul 11.
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Roldan V, etal., Thromb Haemost. 2005 Dec;94(6):1294-9.
27. Santamaria A, etal., Stroke. 2004 Aug;35(8):1795-9. Epub 2004 Jul 1.
28. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
29. Tirado I, etal., Thromb Haemost. 2004 May;91(5):899-904.
30. Yamaguchi K, etal., Shock. 2000 Nov;14(5):535-43.
Additional References at PubMed
PMID:89876   PMID:1544894   PMID:1998666   PMID:2882793   PMID:2888762   PMID:3011063   PMID:3162339   PMID:3198120   PMID:3361230   PMID:3521732   PMID:3754331   PMID:3877053  
PMID:3886654   PMID:4140832   PMID:6604055   PMID:6793628   PMID:8049433   PMID:8528215   PMID:8641707   PMID:8665943   PMID:8710908   PMID:9354665   PMID:9490684   PMID:10361128  
PMID:10801853   PMID:10930399   PMID:11204562   PMID:11589915   PMID:11776307   PMID:11792853   PMID:11805911   PMID:11821096   PMID:11843842   PMID:12052484   PMID:12208481   PMID:12477932  
PMID:12492481   PMID:12876626   PMID:14597972   PMID:14718574   PMID:14760718   PMID:15000805   PMID:15205584   PMID:15257949   PMID:15306750   PMID:15567455   PMID:15617741   PMID:15748262  
PMID:15749685   PMID:16015420   PMID:16157382   PMID:16167952   PMID:16170239   PMID:16199891   PMID:16335952   PMID:16493494   PMID:17139385   PMID:17143557   PMID:17186468   PMID:17408404  
PMID:17605651   PMID:17825897   PMID:17982641   PMID:18180442   PMID:18278180   PMID:18327401   PMID:18441012   PMID:18710647   PMID:18725990   PMID:18765660   PMID:18793325   PMID:18832903  
PMID:18838541   PMID:18974842   PMID:19127083   PMID:19178407   PMID:19178938   PMID:19204433   PMID:19372376   PMID:19415820   PMID:19420105   PMID:19422815   PMID:19448530   PMID:19474702  
PMID:19477491   PMID:19578796   PMID:19625260   PMID:19646235   PMID:19647418   PMID:19698288   PMID:19786295   PMID:19809305   PMID:19878657   PMID:19913121   PMID:19933701   PMID:19933990  
PMID:20022356   PMID:20142324   PMID:20143645   PMID:20228268   PMID:20303064   PMID:20383146   PMID:20452482   PMID:20532885   PMID:20589311   PMID:20628086   PMID:20673868   PMID:20729721  
PMID:20814302   PMID:21071604   PMID:21071930   PMID:21192253   PMID:21264442   PMID:21297451   PMID:21304106   PMID:21512133   PMID:21546496   PMID:21631522   PMID:21828145   PMID:21873635  
PMID:22286219   PMID:22396660   PMID:22500857   PMID:22703881   PMID:22905925   PMID:22916037   PMID:22920075   PMID:22993391   PMID:23376485   PMID:23381795   PMID:23533145   PMID:23659638  
PMID:23692437   PMID:23849223   PMID:23874198   PMID:23896408   PMID:23994767   PMID:24388213   PMID:24509324   PMID:24691729   PMID:24733030   PMID:24816252   PMID:24855058   PMID:24977287  
PMID:25037231   PMID:25113305   PMID:25134986   PMID:25241761   PMID:25489738   PMID:25589788   PMID:25604127   PMID:25609114   PMID:25744496   PMID:25775543   PMID:25790805   PMID:25800206  
PMID:25816745   PMID:25879167   PMID:26037346   PMID:26105808   PMID:26153047   PMID:26153520   PMID:26186194   PMID:26193639   PMID:26248961   PMID:26286125   PMID:26392288   PMID:26613657  
PMID:26706311   PMID:26709783   PMID:26969407   PMID:27003566   PMID:27188843   PMID:27282310   PMID:27694320   PMID:27788882   PMID:27933406   PMID:28069606   PMID:28346966   PMID:28433996  
PMID:28514442   PMID:28514863   PMID:28661939   PMID:28743596   PMID:28816340   PMID:29075790   PMID:29376892   PMID:29419864   PMID:29587641   PMID:29885370   PMID:29994896   PMID:29994899  
PMID:30354195   PMID:30394658   PMID:30512149   PMID:30591525   PMID:30705246   PMID:30929639   PMID:31124034   PMID:31181367   PMID:31279063   PMID:31334892   PMID:31771982   PMID:31924766  
PMID:32335876   PMID:32814053  


Genomics

Comparative Map Data
F12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5177,402,140 - 177,409,576 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl5177,402,141 - 177,409,564 (-)EnsemblGRCh38hg38GRCh38
GRCh385177,402,138 - 177,409,564 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375176,829,139 - 176,836,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365176,761,745 - 176,769,183 (-)NCBINCBI36hg18NCBI36
Build 345176,761,746 - 176,769,183NCBI
Celera5171,664,877 - 171,672,315 (+)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5171,749,566 - 171,757,004 (-)NCBIHuRef
CHM1_15176,262,187 - 176,269,625 (-)NCBICHM1_1
F12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391355,565,771 - 55,574,617 (-)NCBIGRCm39mm39
GRCm381355,417,958 - 55,426,804 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1355,417,958 - 55,426,793 (-)EnsemblGRCm38mm10GRCm38
MGSCv371355,519,327 - 55,528,163 (-)NCBIGRCm37mm9NCBIm37
MGSCv361355,427,610 - 55,436,409 (-)NCBImm8
Celera1356,472,191 - 56,480,813 (-)NCBICelera
Cytogenetic Map13B1NCBI
F12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0179,736,577 - 9,744,420 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl179,736,577 - 9,744,420 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01711,845,561 - 11,853,600 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41715,251,611 - 15,259,583 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11715,251,610 - 15,259,583 (+)NCBI
Celera179,286,222 - 9,294,037 (+)NCBICelera
Cytogenetic Map17p14NCBI
F12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540829,642,096 - 29,650,950 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540829,644,279 - 29,665,161 (-)NCBIChiLan1.0ChiLan1.0
F12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15179,766,089 - 179,773,854 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5179,766,243 - 179,773,485 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05172,703,724 - 172,711,618 (-)NCBIMhudiblu_PPA_v0panPan3
F12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl435,950,695 - 35,998,025 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1435,950,642 - 35,968,137 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
F12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365971,687,511 - 1,694,782 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl280,526,767 - 80,546,096 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1280,527,451 - 80,544,835 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
F12
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12379,414,074 - 79,438,896 (-)NCBI
ChlSab1.1 Ensembl2379,414,225 - 79,432,298 (-)Ensembl
F12
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473312,666,410 - 12,683,273 (+)NCBI

Position Markers
RH47779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,829,678 - 176,829,802UniSTSGRCh37
Build 365176,762,284 - 176,762,408RGDNCBI36
Celera5171,671,652 - 171,671,776RGD
Cytogenetic Map5q33-qterUniSTS
HuRef5171,750,105 - 171,750,229UniSTS
GeneMap99-GB4 RH Map5644.31UniSTS
NCBI RH Map5973.0UniSTS
STS-W95094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,829,161 - 176,829,344UniSTSGRCh37
Build 365176,761,767 - 176,761,950RGDNCBI36
Celera5171,672,110 - 171,672,293RGD
Cytogenetic Map5q33-qterUniSTS
Cytogenetic Map5q35.3UniSTS
HuRef5171,749,588 - 171,749,771UniSTS
GeneMap99-GB4 RH Map5644.35UniSTS
RH70295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,829,166 - 176,829,348UniSTSGRCh37
Build 365176,761,772 - 176,761,954RGDNCBI36
Celera5171,672,106 - 171,672,288RGD
Cytogenetic Map5q33-qterUniSTS
Cytogenetic Map5q35.3UniSTS
HuRef5171,749,593 - 171,749,775UniSTS
GeneMap99-GB4 RH Map5636.91UniSTS
NCBI RH Map5973.0UniSTS
RH67849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375176,829,247 - 176,829,354UniSTSGRCh37
Build 365176,761,853 - 176,761,960RGDNCBI36
Celera5171,672,100 - 171,672,207RGD
Cytogenetic Map5q33-qterUniSTS
Cytogenetic Map5q35.3UniSTS
HuRef5171,749,674 - 171,749,781UniSTS
GeneMap99-GB4 RH Map5637.01UniSTS
NCBI RH Map5973.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1560
Count of miRNA genes:683
Interacting mature miRNAs:799
Transcripts:ENST00000253496, ENST00000502854, ENST00000503736, ENST00000504406, ENST00000510358, ENST00000514943
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 3 3 3
Medium 137 4 424 423 141 424 113 7 98 64 129 125 6 2 50
Low 1008 1142 861 160 1666 29 1949 162 2492 271 948 1294 138 521 935 3
Below cutoff 1273 1727 428 34 129 7 2160 1840 1119 60 343 189 28 676 1674

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011534462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB095845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC145098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF538691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM262522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE139501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP123628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L43615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF964234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U71274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U71275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U71276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U71277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U71278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253496   ⟹   ENSP00000253496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,402,140 - 177,409,576 (-)Ensembl
RefSeq Acc Id: ENST00000502854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,402,160 - 177,404,472 (-)Ensembl
RefSeq Acc Id: ENST00000503736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,403,492 - 177,404,981 (-)Ensembl
RefSeq Acc Id: ENST00000504406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,402,163 - 177,403,750 (-)Ensembl
RefSeq Acc Id: ENST00000510358
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,402,172 - 177,404,472 (-)Ensembl
RefSeq Acc Id: ENST00000514943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5177,402,625 - 177,403,526 (-)Ensembl
RefSeq Acc Id: NM_000505   ⟹   NP_000496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,402,141 - 177,409,564 (-)NCBI
GRCh375176,829,139 - 176,836,577 (-)ENTREZGENE
Build 365176,761,745 - 176,769,183 (-)NCBI Archive
HuRef5171,749,566 - 171,757,004 (-)ENTREZGENE
CHM1_15176,262,187 - 176,269,625 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534462   ⟹   XP_011532764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,402,138 - 177,405,728 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000496   ⟸   NM_000505
- Peptide Label: preproprotein
- UniProtKB: P00748 (UniProtKB/Swiss-Prot),   Q8IZZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011532764   ⟸   XM_011534462
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000253496   ⟸   ENST00000253496
Promoters
RGD ID:6803177
Promoter ID:HG_KWN:51905
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003MGN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365176,763,161 - 176,764,192 (-)MPROMDB
RGD ID:6871704
Promoter ID:EPDNEW_H9017
Type:initiation region
Name:F12_1
Description:coagulation factor XII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9018  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,409,564 - 177,409,624EPDNEW
RGD ID:6871706
Promoter ID:EPDNEW_H9018
Type:initiation region
Name:F12_2
Description:coagulation factor XII
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9017  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385177,416,583 - 177,416,643EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000505.3(F12):c.1768T>A (p.Cys590Ser) single nucleotide variant FACTOR XII (WASHINGTON D.C.) [RCV000001223] Chr5:177402372 [GRCh38]
Chr5:176829373 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.3(F12):c.1115G>C (p.Arg372Pro) single nucleotide variant FACTOR XII (LOCARNO) [RCV000001224] Chr5:177403994 [GRCh38]
Chr5:176830995 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.4(F12):c.-4T>C single nucleotide variant FACTOR XII POLYMORPHISM [RCV000001226]|Factor XII deficiency disease [RCV000293630]|Hereditary angioedema type 3 [RCV000346234]|not specified [RCV000242780] Chr5:177409531 [GRCh38]
Chr5:176836532 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.158A>G (p.Tyr53Cys) single nucleotide variant FACTOR XII (TENRI) [RCV000001227]|Factor XII deficiency disease [RCV000778921]|Hereditary angioedema type 3 [RCV001158012] Chr5:177406019 [GRCh38]
Chr5:176833020 [GRCh37]
Chr5:5q35.3
pathogenic|uncertain significance
NM_000505.4(F12):c.983C>A (p.Thr328Lys) single nucleotide variant Factor XII deficiency disease [RCV000763138]|Hereditary angioedema type 3 [RCV000001228]|Hereditary angioneurotic edema [RCV000222890]|not provided [RCV000255869] Chr5:177404231 [GRCh38]
Chr5:176831232 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.3(F12):c.983C>G (p.Thr328Arg) single nucleotide variant Factor XII deficiency disease [RCV001198361]|Hereditary angioedema type 3 [RCV000001229]|Hyperbilirubinemia [RCV000414902] Chr5:177404231 [GRCh38]
Chr5:176831232 [GRCh37]
Chr5:5q35.3
pathogenic
NM_000505.3(F12):c.1681-1G>A single nucleotide variant F12-Related Disorders [RCV000382012]|Factor XII deficiency disease [RCV000001225]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000306437] Chr5:177402460 [GRCh38]
Chr5:176829461 [GRCh37]
Chr5:5q35.3
pathogenic|likely pathogenic|likely benign
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1 copy number loss See cases [RCV000050645] Chr5:176132340..177586960 [GRCh38]
Chr5:175559343..177013961 [GRCh37]
Chr5:175491949..176946567 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3 copy number gain See cases [RCV000051867] Chr5:175851047..178365049 [GRCh38]
Chr5:175278050..177792050 [GRCh37]
Chr5:175210656..177724656 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175007241-179089812)x1 copy number loss See cases [RCV000052151] Chr5:175007241..179089812 [GRCh38]
Chr5:174434244..178516813 [GRCh37]
Chr5:174366850..178449419 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1 copy number loss See cases [RCV000053127] Chr5:176043476..177995759 [GRCh38]
Chr5:175470479..177422760 [GRCh37]
Chr5:175403085..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1 copy number loss See cases [RCV000053128] Chr5:176115257..177646633 [GRCh38]
Chr5:175542260..177073634 [GRCh37]
Chr5:175474866..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1 copy number loss See cases [RCV000053129] Chr5:176152073..177986213 [GRCh38]
Chr5:175579076..177413214 [GRCh37]
Chr5:175511682..177345820 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1 copy number loss See cases [RCV000053131] Chr5:176152073..177646633 [GRCh38]
Chr5:175579076..177073634 [GRCh37]
Chr5:175511682..177006240 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 copy number gain See cases [RCV000053481] Chr5:176149599..177716401 [GRCh38]
Chr5:175576602..177143402 [GRCh37]
Chr5:175509208..177076008 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177452489)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053860]|See cases [RCV000053860] Chr5:176043476..177452489 [GRCh38]
Chr5:175470479..176879490 [GRCh37]
Chr5:175403085..176812096 [NCBI36]
Chr5:5q35.2-35.3
pathogenic|uncertain significance
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) single nucleotide variant Factor XII deficiency disease [RCV000490384] Chr5:177404082 [GRCh38]
Chr5:176831083 [GRCh37]
Chr5:5q35.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:177261458-177651722)x3 copy number gain See cases [RCV000138817] Chr5:177261458..177651722 [GRCh38]
Chr5:176688459..177078723 [GRCh37]
Chr5:176621065..177011329 [NCBI36]
Chr5:5q35.3
likely benign|uncertain significance
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1 copy number loss See cases [RCV000142365] Chr5:175989092..178009412 [GRCh38]
Chr5:175416095..177436413 [GRCh37]
Chr5:175348701..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1 copy number loss See cases [RCV000142510] Chr5:176132340..177995759 [GRCh38]
Chr5:175559343..177422760 [GRCh37]
Chr5:175491949..177355366 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1 copy number loss See cases [RCV000142047] Chr5:176291838..178662699 [GRCh38]
Chr5:175718841..178089700 [GRCh37]
Chr5:175651447..178022306 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1 copy number loss See cases [RCV000142538] Chr5:176517339..177709289 [GRCh38]
Chr5:175944340..177136290 [GRCh37]
Chr5:175876946..177068896 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1 copy number loss See cases [RCV000143463] Chr5:176143674..178009412 [GRCh38]
Chr5:175570677..177436413 [GRCh37]
Chr5:175503283..177369019 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_000505.3(F12):c.398-12C>T single nucleotide variant Factor XII deficiency disease [RCV000263338]|Hereditary angioedema type 3 [RCV000316243] Chr5:177405197 [GRCh38]
Chr5:176832198 [GRCh37]
Chr5:5q35.3
benign|likely benign
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NM_000505.3(F12):c.1018+13G>C single nucleotide variant Factor XII deficiency disease [RCV000378159]|Hereditary angioedema type 3 [RCV000283662] Chr5:177404183 [GRCh38]
Chr5:176831184 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_000505.4(F12):c.619G>C (p.Ala207Pro) single nucleotide variant Factor XII deficiency disease [RCV000360167]|Hereditary angioedema type 3 [RCV000264675]|not specified [RCV000252303] Chr5:177404825 [GRCh38]
Chr5:176831826 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1107G>C (p.Ser369=) single nucleotide variant Factor XII deficiency disease [RCV000327151]|Hereditary angioedema type 3 [RCV000271624]|not provided [RCV000861563] Chr5:177404002 [GRCh38]
Chr5:176831003 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.4(F12):c.1251-9C>T single nucleotide variant Factor XII deficiency disease [RCV000407124]|Hereditary angioedema type 3 [RCV001153639]|Hereditary angioneurotic edema [RCV000315363]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000262305]|not specified [RCV000247566] Chr5:177403626 [GRCh38]
Chr5:176830627 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1025C>T (p.Pro342Leu) single nucleotide variant Factor XII deficiency disease [RCV000323673]|Hereditary angioedema type 3 [RCV000268631]|not provided [RCV000659040] Chr5:177404084 [GRCh38]
Chr5:176831085 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.3(F12):c.930G>C (p.Arg310Ser) single nucleotide variant Factor XII deficiency disease [RCV000351816]|Hereditary angioedema type 3 [RCV000278152]|not specified [RCV000441555] Chr5:177404284 [GRCh38]
Chr5:176831285 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.-3G>A single nucleotide variant Factor XII deficiency disease [RCV000333681]|Hereditary angioedema type 3 [RCV000385814] Chr5:177409530 [GRCh38]
Chr5:176836531 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.3(F12):c.1018+12G>C single nucleotide variant Factor XII deficiency disease [RCV000320036]|Hereditary angioedema type 3 [RCV000374697] Chr5:177404184 [GRCh38]
Chr5:176831185 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.3(F12):c.-8C>T single nucleotide variant Factor XII deficiency disease [RCV000287899]|Hereditary angioedema type 3 [RCV000384518] Chr5:177409535 [GRCh38]
Chr5:176836536 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.3(F12):c.418C>G (p.Leu140Val) single nucleotide variant Factor XII deficiency disease [RCV000322122]|Hereditary angioedema type 3 [RCV000355853]|not provided [RCV000860986] Chr5:177405165 [GRCh38]
Chr5:176832166 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.928A>T (p.Arg310Trp) single nucleotide variant Factor XII deficiency disease [RCV000400267]|Hereditary angioedema type 3 [RCV000293356] Chr5:177404286 [GRCh38]
Chr5:176831287 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.711C>T (p.Pro237=) single nucleotide variant Factor XII deficiency disease [RCV000308826]|Hereditary angioedema type 3 [RCV000363476] Chr5:177404588 [GRCh38]
Chr5:176831589 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.348C>A (p.Gly116=) single nucleotide variant Factor XII deficiency disease [RCV000294965]|Hereditary angioedema type 3 [RCV000373101] Chr5:177405372 [GRCh38]
Chr5:176832373 [GRCh37]
Chr5:5q35.3
benign|likely benign|uncertain significance
NM_000505.3(F12):c.1212C>G (p.Pro404=) single nucleotide variant Factor XII deficiency disease [RCV000311557]|Hereditary angioedema type 3 [RCV000366214] Chr5:177403897 [GRCh38]
Chr5:176830898 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.756C>T (p.Ala252=) single nucleotide variant Factor XII deficiency disease [RCV000348457]|Hereditary angioedema type 3 [RCV000407996] Chr5:177404543 [GRCh38]
Chr5:176831544 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1251-12C>A single nucleotide variant Factor XII deficiency disease [RCV000405436]|Hereditary angioedema type 3 [RCV000370104] Chr5:177403629 [GRCh38]
Chr5:176830630 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.3(F12):c.-25G>A single nucleotide variant Factor XII deficiency disease [RCV000392086]|Hereditary angioedema type 3 [RCV000344877] Chr5:177409552 [GRCh38]
Chr5:176836553 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.*361T>C single nucleotide variant Factor XII deficiency disease [RCV000312189]|Hereditary angioneurotic edema [RCV000406005]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000385590]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001156139] Chr5:177398647 [GRCh38]
Chr5:176825648 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.-57G>C single nucleotide variant Factor XII deficiency disease [RCV000317529]|Hereditary angioneurotic edema [RCV000372080] Chr5:177409584 [GRCh38]
Chr5:176836585 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) single nucleotide variant Factor XII deficiency disease [RCV000326709]|Hereditary angioneurotic edema [RCV000384048]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000341697]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152237]|not provided [RCV000956355] Chr5:177398001 [GRCh38]
Chr5:176825002 [GRCh37]
Chr5:5q35.3
benign
NM_000505.3(F12):c.1272G>C (p.Thr424=) single nucleotide variant Factor XII deficiency disease [RCV000390084]|Hereditary angioedema type 3 [RCV001153637]|Hereditary angioneurotic edema [RCV000339217]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000330431]|not provided [RCV000861570] Chr5:177403596 [GRCh38]
Chr5:176830597 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.630C>T (p.Asp210=) single nucleotide variant Factor XII deficiency disease [RCV000305424]|Hereditary angioedema type 3 [RCV000407965] Chr5:177404814 [GRCh38]
Chr5:176831815 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) single nucleotide variant Factor XII deficiency disease [RCV000269350]|Hereditary angioneurotic edema [RCV000389488]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000305499]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152236] Chr5:177397849 [GRCh38]
Chr5:176824850 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1299C>T (p.Asn433=) single nucleotide variant Factor XII deficiency disease [RCV000284138]|Hereditary angioedema type 3 [RCV001152355]|Hereditary angioneurotic edema [RCV000378378]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000275367]|not provided [RCV000861740] Chr5:177403569 [GRCh38]
Chr5:176830570 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*485G>A single nucleotide variant Factor XII deficiency disease [RCV000369193]|Hereditary angioneurotic edema [RCV000276999]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000327698]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001157825] Chr5:177398771 [GRCh38]
Chr5:176825772 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.1251-7C>T single nucleotide variant Factor XII deficiency disease [RCV000280606]|Hereditary angioedema type 3 [RCV001153638]|Hereditary angioneurotic edema [RCV000336347]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000357198] Chr5:177403624 [GRCh38]
Chr5:176830625 [GRCh37]
Chr5:5q35.3
likely benign
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) single nucleotide variant Factor XII deficiency disease [RCV000286248]|Hereditary angioneurotic edema [RCV000378335]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000302184]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152239] Chr5:177398085 [GRCh38]
Chr5:176825086 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_000505.3(F12):c.-62C>T single nucleotide variant Factor XII deficiency disease [RCV000286884]|Hereditary angioneurotic edema [RCV000323254] Chr5:177409589 [GRCh38]
Chr5:176836590 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.3(F12):c.1342C>T (p.Arg448Cys) single nucleotide variant Factor XII deficiency disease [RCV000342441]|Hereditary angioedema type 3 [RCV001152354]|Hereditary angioneurotic edema [RCV000287521]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000363488] Chr5:177403526 [GRCh38]
Chr5:176830527 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) single nucleotide variant Factor XII deficiency disease [RCV000340024]|Hereditary angioneurotic edema [RCV000292092]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000392789]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001152238] Chr5:177398068 [GRCh38]
Chr5:176825069 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*179G>A single nucleotide variant Factor XII deficiency disease [RCV000402942]|Hereditary angioneurotic edema [RCV000343493]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000297393]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153521] Chr5:177398465 [GRCh38]
Chr5:176825466 [GRCh37]
Chr5:5q35.3
benign|likely benign
NM_003052.5(SLC34A1):c.*202A>C single nucleotide variant Factor XII deficiency disease [RCV000299097]|Hereditary angioneurotic edema [RCV000337844]|Nephrolithiasis/osteoporosis, hypophosphatemic [RCV000370669]|Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [RCV001153523] Chr5:177398488 [GRCh38]
Chr5:176825489 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.120C>T (p.Leu40=) single nucleotide variant Factor XII deficiency disease [RCV001152535]|Hereditary angioedema type 3 [RCV001152536] Chr5:177406057 [GRCh38]
Chr5:176833058 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175722788-177423091)x3 copy number gain See cases [RCV000445774] Chr5:175722788..177423091 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176505173-178230923)x1 copy number loss See cases [RCV000445817] Chr5:176505173..178230923 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_000505.3(F12):c.894_911dup (p.Gln300_Thr305dup) duplication Hereditary angioedema type 3 [RCV000456124] Chr5:177404302..177404303 [GRCh38]
Chr5:176831303..176831304 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_000505.3(F12):c.971_1018+24del deletion Hereditary angioedema type 3 [RCV000510138] Chr5:177404172..177404243 [GRCh38]
Chr5:176831173..176831244 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177392885)x1 copy number loss See cases [RCV000511974] Chr5:175438045..177392885 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain See cases [RCV000511393] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570678-177437340)x1 copy number loss See cases [RCV000512405] Chr5:175570678..177437340 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000677989] Chr5:176798338..177423150 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175438045-177481250)x1 copy number loss not provided [RCV000682614] Chr5:175438045..177481250 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176044976-177023859)x1 copy number loss not provided [RCV000682618] Chr5:176044976..177023859 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177436413)x1 copy number loss not provided [RCV000682615] Chr5:175570677..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175346223-177423236)x1 copy number loss not provided [RCV000745338] Chr5:175346223..177423236 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 copy number loss not provided [RCV000745339] Chr5:175433876..177441189 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_000505.3(F12):c.800+8G>A single nucleotide variant not provided [RCV000861857] Chr5:177404491 [GRCh38]
Chr5:176831492 [GRCh37]
Chr5:5q35.3
benign
GRCh37/hg19 5q35.2-35.3(chr5:176305543-177422876) copy number gain not provided [RCV000767712] Chr5:176305543..177422876 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:176732536-177260046)x1 copy number loss not provided [RCV000845642] Chr5:176732536..177260046 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:176643613-179085551)x3 copy number gain not provided [RCV000846590] Chr5:176643613..179085551 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:176774402-177064884)x4 copy number gain not provided [RCV000848335] Chr5:176774402..177064884 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.129C>T (p.Thr43=) single nucleotide variant Factor XII deficiency disease [RCV001158013]|Hereditary angioedema type 3 [RCV001152534] Chr5:177406048 [GRCh38]
Chr5:176833049 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
Single allele deletion Marfanoid habitus and intellectual disability [RCV000851176] Chr5:175875407..177036017 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
NM_000505.4(F12):c.1018+11G>T single nucleotide variant Factor XII deficiency disease [RCV001152451]|Hereditary angioedema type 3 [RCV001152450] Chr5:177404185 [GRCh38]
Chr5:176831186 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177439550)x3 copy number gain not provided [RCV000846148] Chr5:175570677..177439550 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) single nucleotide variant Factor XII deficiency disease [RCV001158008]|Hereditary angioedema type 3 [RCV001158009] Chr5:177405427 [GRCh38]
Chr5:176832428 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.3(F12):c.144C>T (p.His48=) single nucleotide variant not provided [RCV000940749] Chr5:177406033 [GRCh38]
Chr5:176833034 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.3(F12):c.757G>C (p.Glu253Gln) single nucleotide variant not provided [RCV000862881] Chr5:177404542 [GRCh38]
Chr5:176831543 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.4(F12):c.286+6A>G single nucleotide variant Factor XII deficiency disease [RCV001158010]|Hereditary angioedema type 3 [RCV001158011] Chr5:177405729 [GRCh38]
Chr5:176832730 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.530C>T (p.Ala177Val) single nucleotide variant Hereditary angioedema type 3 [RCV001263429] Chr5:177404914 [GRCh38]
Chr5:176831915 [GRCh37]
Chr5:5q35.3
benign
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) single nucleotide variant Hereditary angioedema type 3 [RCV001263430] Chr5:177403255 [GRCh38]
Chr5:176830256 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) single nucleotide variant Hereditary angioedema type 3 [RCV001263431] Chr5:177402372 [GRCh38]
Chr5:176829373 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.41T>C (p.Leu14Ser) single nucleotide variant Hereditary angioedema type 3 [RCV001263432] Chr5:177409487 [GRCh38]
Chr5:176836488 [GRCh37]
Chr5:5q35.3
likely benign
NM_000505.4(F12):c.1599A>G (p.Ser533=) single nucleotide variant Hereditary angioedema type 3 [RCV001263433] Chr5:177402631 [GRCh38]
Chr5:176829632 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
NM_000505.4(F12):c.*86C>T single nucleotide variant Factor XII deficiency disease [RCV001157828]|Hereditary angioedema type 3 [RCV001157827] Chr5:177402206 [GRCh38]
Chr5:176829207 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1387+4C>G single nucleotide variant Factor XII deficiency disease [RCV001152352]|Hereditary angioedema type 3 [RCV001152353] Chr5:177403477 [GRCh38]
Chr5:176830478 [GRCh37]
Chr5:5q35.3
likely benign|uncertain significance
NM_000505.4(F12):c.957G>C (p.Gln319His) single nucleotide variant Factor XII deficiency disease [RCV001152453]|Hereditary angioedema type 3 [RCV001152452] Chr5:177404257 [GRCh38]
Chr5:176831258 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.30G>A (p.Leu10=) single nucleotide variant Factor XII deficiency disease [RCV001152537]|Hereditary angioedema type 3 [RCV001152538] Chr5:177409498 [GRCh38]
Chr5:176836499 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1251-9C>A single nucleotide variant Factor XII deficiency disease [RCV001156237]|Hereditary angioedema type 3 [RCV001153640] Chr5:177403626 [GRCh38]
Chr5:176830627 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_000505.4(F12):c.*9G>A single nucleotide variant Factor XII deficiency disease [RCV001157829]|Hereditary angioedema type 3 [RCV001152349] Chr5:177402283 [GRCh38]
Chr5:176829284 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1704G>A (p.Val568=) single nucleotide variant Factor XII deficiency disease [RCV001152350]|Hereditary angioedema type 3 [RCV001152351] Chr5:177402436 [GRCh38]
Chr5:176829437 [GRCh37]
Chr5:5q35.3
benign|uncertain significance
NM_000505.4(F12):c.1142G>A (p.Arg381His) single nucleotide variant Factor XII deficiency disease [RCV001156239]|Hereditary angioedema type 3 [RCV001156238] Chr5:177403967 [GRCh38]
Chr5:176830968 [GRCh37]
Chr5:5q35.3
uncertain significance
NM_000505.4(F12):c.1018+14G>T single nucleotide variant Factor XII deficiency disease [RCV001157916]|Hereditary angioedema type 3 [RCV001157915] Chr5:177404182 [GRCh38]
Chr5:176831183 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.2-35.3(chr5:175346695-177469711)x1 copy number loss Sotos syndrome [RCV001252953] Chr5:175346695..177469711 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175394616-177436413)x3 copy number gain not provided [RCV001258713] Chr5:175394616..177436413 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-177114151)x3 copy number gain not provided [RCV001258712] Chr5:175570677..177114151 [GRCh37]
Chr5:5q35.2-35.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3530 AgrOrtholog
COSMIC F12 COSMIC
Ensembl Genes ENSG00000131187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000253496 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000253496 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.20.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131187 GTEx
HGNC ID HGNC:3530 ENTREZGENE
Human Proteome Map F12 Human Proteome Map
InterPro Coagulation_fac_XII/HGFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibronectin_type1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2161 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2161 ENTREZGENE
OMIM 234000 OMIM
  610618 OMIM
  610619 OMIM
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA161 PharmGKB
PIRSF Factor_XII_HGFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRINGLE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0R7FJH5_HUMAN UniProtKB/TrEMBL
  A0A346D5N4_HUMAN UniProtKB/TrEMBL
  FA12_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q1JR85_HUMAN UniProtKB/TrEMBL
  Q8IZZ5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary P78339 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 F12  coagulation factor XII    coagulation factor XII (Hageman factor)  Symbol and/or name change 5135510 APPROVED
2011-08-16 F12  coagulation factor XII (Hageman factor)  F12  coagulation factor XII (Hageman factor)  Symbol and/or name change 5135510 APPROVED