F11 (coagulation factor XI) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: F11 (coagulation factor XI) Homo sapiens
Analyze
Symbol: F11
Name: coagulation factor XI
RGD ID: 1319673
HGNC Page HGNC
Description: Enables identical protein binding activity. Involved in blood coagulation; plasminogen activation; and positive regulation of fibrinolysis. Located in extracellular space. Implicated in factor XI deficiency and thrombosis. Biomarker of Noonan syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: coagualtion factor XI; FXI; MGC141891; plasma thromboplastin antecedent; PTA
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 Ensembl4186,266,189 - 186,289,681 (+)EnsemblGRCh38hg38GRCh38
GRCh384186,265,964 - 186,290,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374187,187,343 - 187,210,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364187,424,112 - 187,447,829 (+)NCBINCBI36hg18NCBI36
Build 344187,562,426 - 187,585,083NCBI
Celera4184,511,477 - 184,537,546 (+)NCBI
Cytogenetic Map4q35.2NCBI
HuRef4182,938,469 - 182,962,233 (+)NCBIHuRef
CHM1_14187,163,556 - 187,187,273 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. Asakai R, etal., Proc Natl Acad Sci U S A. 1989 Oct;86(20):7667-71.
2. de Haan M, etal., Am J Med Genet. 1988 Feb;29(2):277-82.
3. GOA_HUMAN data from the GO Consortium
4. Kleinschnitz C, etal., J Exp Med. 2006 Mar 20;203(3):513-8. Epub 2006 Mar 13.
5. Laudes IJ, etal., Am J Pathol. 2002 May;160(5):1867-75.
6. Li Y, etal., J Thromb Haemost. 2009 Nov;7(11):1802-8. doi: 10.1111/j.1538-7836.2009.03544.x. Epub 2009 Jul 6.
7. Lunghi B, etal., Thromb Res. 2012 Sep;130(3):563-4. doi: 10.1016/j.thromres.2012.05.004. Epub 2012 May 25.
8. Meijers JC, etal., N Engl J Med. 2000 Mar 9;342(10):696-701.
9. Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101.
10. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
11. OMIM Disease Annotation Pipeline
12. Pipeline to import KEGG annotations from KEGG into RGD
13. Pipeline to import SMPDB annotations from SMPDB into RGD
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Sato E, etal., Am J Hematol. 2000 Apr;63(4):165-9.
18. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
19. Sokol J, etal., J Obstet Gynaecol. 2015;35(6):621-4. doi: 10.3109/01443615.2014.991284. Epub 2014 Dec 17.
20. Ventura C, etal., Thromb Haemost. 2000 Nov;84(5):833-40.
Additional References at PubMed
PMID:89876   PMID:291905   PMID:1547342   PMID:1652157   PMID:1673289   PMID:1762944   PMID:1952475   PMID:1998667   PMID:2019570   PMID:2052060   PMID:2551064   PMID:2827746  
PMID:2844223   PMID:3636155   PMID:3936495   PMID:6626744   PMID:7044446   PMID:7669672   PMID:7888672   PMID:8555184   PMID:8703832   PMID:9169594   PMID:9242536   PMID:9401068  
PMID:9593722   PMID:9787168   PMID:10027710   PMID:10391209   PMID:10494760   PMID:10552949   PMID:10606881   PMID:10823824   PMID:10962009   PMID:11412111   PMID:11733491   PMID:11891231  
PMID:11895778   PMID:12029092   PMID:12167623   PMID:12372819   PMID:12477932   PMID:12496253   PMID:12517745   PMID:12871398   PMID:12944405   PMID:12968031   PMID:14521591   PMID:14521595  
PMID:14629467   PMID:14717969   PMID:15072993   PMID:15090552   PMID:15182578   PMID:15226185   PMID:15317813   PMID:15375170   PMID:15456479   PMID:15456480   PMID:15456490   PMID:15489334  
PMID:15545266   PMID:15634276   PMID:15815621   PMID:15842381   PMID:15870541   PMID:15996948   PMID:16042419   PMID:16079124   PMID:16085935   PMID:16204896   PMID:16330457   PMID:16335952  
PMID:16344560   PMID:16613788   PMID:16835901   PMID:16878977   PMID:17229051   PMID:17257616   PMID:17284699   PMID:17549289   PMID:17581330   PMID:17597996   PMID:17652512   PMID:17768109  
PMID:18005151   PMID:18020374   PMID:18024374   PMID:18186617   PMID:18192270   PMID:18217146   PMID:18268095   PMID:18327400   PMID:18387979   PMID:18388506   PMID:18441012   PMID:18515884  
PMID:18612554   PMID:18832909   PMID:18839438   PMID:19056867   PMID:19351955   PMID:19617576   PMID:19652879   PMID:19661487   PMID:19682239   PMID:19718484   PMID:19913121   PMID:20015217  
PMID:20042724   PMID:20110423   PMID:20128871   PMID:20308231   PMID:20339536   PMID:20352152   PMID:20456758   PMID:20491955   PMID:20523169   PMID:20589316   PMID:20628086   PMID:20727068  
PMID:20961395   PMID:21057700   PMID:21192253   PMID:21236471   PMID:21527525   PMID:21649796   PMID:21668437   PMID:21718436   PMID:21820158   PMID:21980494   PMID:21999818   PMID:22159456  
PMID:22207756   PMID:22322133   PMID:22505407   PMID:22703881   PMID:22704541   PMID:22961984   PMID:23305485   PMID:23332144   PMID:23376485   PMID:23494098   PMID:23515926   PMID:23571684  
PMID:23617568   PMID:23650146   PMID:23659638   PMID:23929304   PMID:24086496   PMID:24112640   PMID:24420855   PMID:24498168   PMID:24509324   PMID:24759143   PMID:24977287   PMID:25091233  
PMID:25092234   PMID:25288467   PMID:25338662   PMID:25379760   PMID:25618263   PMID:25681615   PMID:25935648   PMID:25976967   PMID:26136249   PMID:26160656   PMID:26260105   PMID:26386215  
PMID:26423325   PMID:26631918   PMID:26769048   PMID:26857798   PMID:26934731   PMID:27006387   PMID:27067486   PMID:27094709   PMID:27414984   PMID:27419389   PMID:27627722   PMID:27710856  
PMID:27723456   PMID:27756191   PMID:27933406   PMID:28009647   PMID:28053049   PMID:28124063   PMID:28148841   PMID:28353616   PMID:28393470   PMID:28445521   PMID:28514442   PMID:28615222  
PMID:28960694   PMID:29032977   PMID:29158361   PMID:29619369   PMID:29727017   PMID:29995659   PMID:30021884   PMID:30355187   PMID:30600428   PMID:30784172   PMID:30801944   PMID:30845846  
PMID:30950027   PMID:31400132   PMID:31519061   PMID:31791878   PMID:31912715   PMID:32118380   PMID:32335872   PMID:32751741   PMID:32809158   PMID:32809486  


Genomics

Comparative Map Data
F11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4186,266,189 - 186,289,681 (+)EnsemblGRCh38hg38GRCh38
GRCh384186,265,964 - 186,290,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374187,187,343 - 187,210,835 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364187,424,112 - 187,447,829 (+)NCBINCBI36hg18NCBI36
Build 344187,562,426 - 187,585,083NCBI
Celera4184,511,477 - 184,537,546 (+)NCBI
Cytogenetic Map4q35.2NCBI
HuRef4182,938,469 - 182,962,233 (+)NCBIHuRef
CHM1_14187,163,556 - 187,187,273 (+)NCBICHM1_1
F11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39845,693,696 - 45,715,092 (-)NCBIGRCm39mm39
GRCm39 Ensembl845,694,211 - 45,715,068 (-)Ensembl
GRCm38845,240,659 - 45,262,055 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl845,241,174 - 45,262,031 (-)EnsemblGRCm38mm10GRCm38
MGSCv37846,326,524 - 46,347,385 (-)NCBIGRCm37mm9NCBIm37
MGSCv36846,739,987 - 46,760,848 (-)NCBImm8
Celera847,928,261 - 47,949,034 (-)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map825.14NCBI
F11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21646,986,107 - 47,009,015 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1650,179,458 - 50,201,698 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01650,179,458 - 50,201,644 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01649,902,415 - 49,924,601 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41650,276,330 - 50,298,903 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11650,287,001 - 50,298,978 (+)NCBI
Celera1644,976,615 - 44,998,530 (+)NCBICelera
Cytogenetic Map16q11NCBI
F11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540322,811,380 - 22,830,563 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540322,811,211 - 22,830,281 (-)NCBIChiLan1.0ChiLan1.0
F11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14190,643,733 - 190,666,512 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4190,643,733 - 190,666,512 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04178,436,865 - 178,459,568 (+)NCBIMhudiblu_PPA_v0panPan3
F11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11644,469,609 - 44,492,833 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1644,469,632 - 44,540,292 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1644,956,542 - 44,972,975 (-)NCBI
ROS_Cfam_1.01646,683,089 - 46,700,923 (-)NCBI
UMICH_Zoey_3.11644,652,096 - 44,668,510 (-)NCBI
UNSW_CanFamBas_1.01645,264,846 - 45,281,307 (-)NCBI
UU_Cfam_GSD_1.01645,395,778 - 45,412,243 (-)NCBI
LOC101967202
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494334,886,563 - 34,903,578 (+)NCBI
SpeTri2.0NW_0049365543,205,539 - 3,223,228 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl179,045,997 - 9,073,520 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1179,045,990 - 9,073,552 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
F11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17132,180,026 - 132,207,081 (+)NCBI
ChlSab1.1 Ensembl7132,180,336 - 132,208,155 (+)Ensembl
Vero_WHO_p1.0NW_023666037112,505,568 - 112,530,733 (+)NCBI
F11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476917,093,643 - 17,115,716 (+)NCBI

Position Markers
SHGC4-1528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,194,227 - 187,194,365UniSTSGRCh37
Build 364187,431,221 - 187,431,359RGDNCBI36
Celera4184,518,591 - 184,518,729RGD
Cytogenetic Map4q35UniSTS
HuRef4182,945,615 - 182,945,753UniSTS
D4S3173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,209,787 - 187,209,890UniSTSGRCh37
Build 364187,446,781 - 187,446,884RGDNCBI36
Celera4184,536,498 - 184,536,601RGD
Cytogenetic Map4q35UniSTS
Cytogenetic Map4q35.2UniSTS
HuRef4182,961,185 - 182,961,288UniSTS
Whitehead-YAC Contig Map4 UniSTS
RH121982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,195,289 - 187,195,514UniSTSGRCh37
Build 364187,432,283 - 187,432,508RGDNCBI36
Celera4184,519,653 - 184,519,878RGD
Cytogenetic Map4q35UniSTS
HuRef4182,946,677 - 182,946,902UniSTS
GDB:176411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,195,404 - 187,196,984UniSTSGRCh37
Build 364187,432,398 - 187,433,978RGDNCBI36
Celera4184,519,768 - 184,521,348RGD
Cytogenetic Map4q35UniSTS
HuRef4182,946,792 - 182,948,372UniSTS
GDB:186858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,191,646 - 187,192,002UniSTSGRCh37
Build 364187,428,640 - 187,428,996RGDNCBI36
Celera4184,516,007 - 184,516,365RGD
Cytogenetic Map4q35UniSTS
HuRef4182,943,031 - 182,943,389UniSTS
SHGC-67651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,195,493 - 187,195,682UniSTSGRCh37
Build 364187,432,487 - 187,432,676RGDNCBI36
Celera4184,519,857 - 184,520,046RGD
Cytogenetic Map4q35UniSTS
HuRef4182,946,881 - 182,947,070UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS
NCBI RH Map41692.6UniSTS
SHGC4-289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,209,382 - 187,209,516UniSTSGRCh37
Build 364187,446,376 - 187,446,510RGDNCBI36
Celera4184,536,093 - 184,536,227RGD
Cytogenetic Map4q35UniSTS
Cytogenetic Map4q35.2UniSTS
HuRef4182,960,780 - 182,960,914UniSTS
SHGC4-1037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,209,785 - 187,209,934UniSTSGRCh37
Build 364187,446,779 - 187,446,928RGDNCBI36
Celera4184,536,496 - 184,536,645RGD
Cytogenetic Map4q35UniSTS
Cytogenetic Map4q35.2UniSTS
HuRef4182,961,183 - 182,961,332UniSTS
Stanford-G3 RH Map410054.0UniSTS
GeneMap99-G3 RH Map49979.0UniSTS
SHGC-59543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,196,803 - 187,197,151UniSTSGRCh37
Build 364187,433,797 - 187,434,145RGDNCBI36
Celera4184,521,167 - 184,521,515RGD
Cytogenetic Map4q35UniSTS
HuRef4182,948,191 - 182,948,539UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS
G34291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,194,314 - 187,194,454UniSTSGRCh37
Build 364187,431,308 - 187,431,448RGDNCBI36
Celera4184,518,678 - 184,518,818RGD
Cytogenetic Map4q35UniSTS
HuRef4182,945,702 - 182,945,842UniSTS
STS-M13142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374187,209,650 - 187,209,872UniSTSGRCh37
Build 364187,446,644 - 187,446,866RGDNCBI36
Celera4184,536,361 - 184,536,583RGD
Cytogenetic Map4q35UniSTS
Cytogenetic Map4q35.2UniSTS
HuRef4182,961,048 - 182,961,270UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1244
Count of miRNA genes:625
Interacting mature miRNAs:689
Transcripts:ENST00000264691, ENST00000264692, ENST00000403665, ENST00000452239, ENST00000492972, ENST00000503841, ENST00000514715
Prediction methods:Microtar, 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.


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
High
Medium 2 413 413 1 414 57 1 10
Low 124 28 53 28 100 29 100 6 41 161 30 362 8 22
Below cutoff 1859 1937 927 96 671 8 2665 1580 3239 90 993 731 88 682 2006

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001741172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB004057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY191837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC119014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC122863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA630863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH427742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264691   ⟹   ENSP00000264691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,285,638 - 186,288,806 (+)Ensembl
RefSeq Acc Id: ENST00000264692   ⟹   ENSP00000264692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,266,263 - 186,288,780 (+)Ensembl
RefSeq Acc Id: ENST00000403665   ⟹   ENSP00000384957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,266,189 - 186,289,681 (+)Ensembl
RefSeq Acc Id: ENST00000452239   ⟹   ENSP00000397401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,275,855 - 186,282,069 (+)Ensembl
RefSeq Acc Id: ENST00000492972   ⟹   ENSP00000424479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,266,200 - 186,274,897 (+)Ensembl
RefSeq Acc Id: ENST00000503841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,287,589 - 186,288,780 (+)Ensembl
RefSeq Acc Id: ENST00000514715
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4186,272,981 - 186,274,609 (+)Ensembl
RefSeq Acc Id: NM_000128   ⟹   NP_000119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,266,189 - 186,289,681 (+)NCBI
GRCh374187,187,099 - 187,210,835 (+)NCBI
Build 364187,424,112 - 187,447,829 (+)NCBI Archive
HuRef4182,938,469 - 182,962,233 (+)ENTREZGENE
CHM1_14187,163,556 - 187,187,273 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354804   ⟹   NP_001341733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,266,189 - 186,274,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262821   ⟹   XP_005262878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,290,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262822   ⟹   XP_005262879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,290,727 (+)NCBI
GRCh374187,187,099 - 187,210,835 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262823   ⟹   XP_005262880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,290,727 (+)NCBI
GRCh374187,187,099 - 187,210,835 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006714137   ⟹   XP_006714200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,290,727 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007884   ⟹   XP_016863373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,284,185 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007885   ⟹   XP_016863374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,284,166 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007886   ⟹   XP_016863375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,282,529 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001741172
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,964 - 186,286,498 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000119   ⟸   NM_000128
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P03951 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262878   ⟸   XM_005262821
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005262879   ⟸   XM_005262822
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005262880   ⟸   XM_005262823
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006714200   ⟸   XM_006714137
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863373   ⟸   XM_017007884
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016863374   ⟸   XM_017007885
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016863375   ⟸   XM_017007886
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001341733   ⟸   NM_001354804
- Peptide Label: isoform 3 precursor
- Sequence:
RefSeq Acc Id: ENSP00000397401   ⟸   ENST00000452239
RefSeq Acc Id: ENSP00000424479   ⟸   ENST00000492972
RefSeq Acc Id: ENSP00000384957   ⟸   ENST00000403665
RefSeq Acc Id: ENSP00000264692   ⟸   ENST00000264692
RefSeq Acc Id: ENSP00000264691   ⟸   ENST00000264691
Protein Domains
Apple   Peptidase S1

Promoters
RGD ID:6869086
Promoter ID:EPDNEW_H7708
Type:initiation region
Name:F11_1
Description:coagulation factor XI
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7709  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,265,972 - 186,266,032EPDNEW
RGD ID:6869088
Promoter ID:EPDNEW_H7709
Type:multiple initiation site
Name:F11_2
Description:coagulation factor XI
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7708  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384186,266,189 - 186,266,249EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000128.3(F11):c.478G>T (p.Glu160Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000778728] Chr4:186274268 [GRCh38]
Chr4:187195422 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1716+1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000012665]|not provided [RCV001383739] Chr4:186287824 [GRCh38]
Chr4:187208978 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.1029-2A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000012668] Chr4:186280472 [GRCh38]
Chr4:187201626 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.485+5G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000012669] Chr4:186274280 [GRCh38]
Chr4:187195434 [GRCh37]
Chr4:4q35.2
pathogenic
F11, DEL deletion Hereditary factor XI deficiency disease [RCV000012680] Chr4:4q35 pathogenic
NM_000128.3(F11):c.841C>T (p.Gln281Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000763124]|Plasma factor XI deficiency [RCV001273720]|not provided [RCV000521205] Chr4:186280097 [GRCh38]
Chr4:187201251 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.403G>T (p.Glu135Ter) single nucleotide variant Abnormal bleeding [RCV001270535]|Hereditary factor XI deficiency disease [RCV000012666]|Inborn genetic diseases [RCV001266322]|Plasma factor XI deficiency [RCV001273717]|not provided [RCV000311271] Chr4:186274193 [GRCh38]
Chr4:187195347 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.901T>C (p.Phe301Leu) single nucleotide variant Factor XI [RCV001258090]|Hereditary factor XI deficiency disease [RCV000012667]|Plasma factor XI deficiency [RCV001273722]|not provided [RCV000727626] Chr4:186280258 [GRCh38]
Chr4:187201412 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1378T>G (p.Phe460Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012670] Chr4:186285711 [GRCh38]
Chr4:187206865 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.438C>A (p.Cys146Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012671]|not provided [RCV001228574] Chr4:186274228 [GRCh38]
Chr4:187195382 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1211C>A (p.Thr404Asn) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012672] Chr4:186284167 [GRCh38]
Chr4:187205321 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.976C>T (p.Arg326Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012673] Chr4:186280333 [GRCh38]
Chr4:187201487 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1289C>T (p.Ala430Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012674] Chr4:186284245 [GRCh38]
Chr4:187205399 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012675] Chr4:186288518 [GRCh38]
Chr4:187209672 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.166T>C (p.Cys56Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012676]|Plasma factor XI deficiency [RCV001273715]|not provided [RCV000802420] Chr4:186271719 [GRCh38]
Chr4:187192873 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000128.3(F11):c.809A>T (p.Lys270Ile) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012677]|not provided [RCV000059034] Chr4:186280065 [GRCh38]
Chr4:187201219 [GRCh37]
Chr4:4q35.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000128.3(F11):c.1253G>T (p.Gly418Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012678] Chr4:186284209 [GRCh38]
Chr4:187205363 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000128.3(F11):c.1760G>C (p.Trp587Ser) single nucleotide variant Hereditary factor XI deficiency disease [RCV000012679] Chr4:186288496 [GRCh38]
Chr4:187209650 [GRCh37]
Chr4:4q35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3 copy number gain See cases [RCV000050554] Chr4:186218358..187484068 [GRCh38]
Chr4:187139512..188405222 [GRCh37]
Chr4:187376506..188642216 [NCBI36]
Chr4:4q35.2
uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3 copy number gain See cases [RCV000051657] Chr4:185738786..186557156 [GRCh38]
Chr4:186659940..187478310 [GRCh37]
Chr4:186896934..187715304 [NCBI36]
Chr4:4q35.1-35.2
uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 copy number loss See cases [RCV000053394] Chr4:185351249..189867552 [GRCh38]
Chr4:186272403..190788707 [GRCh37]
Chr4:186509397..191025701 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185498280-186984787)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053395]|See cases [RCV000053395] Chr4:185498280..186984787 [GRCh38]
Chr4:186419434..187905941 [GRCh37]
Chr4:186656428..188142935 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
NM_000128.3(F11):c.1369G>A (p.Asp457Asn) single nucleotide variant Malignant melanoma [RCV000066372] Chr4:186285702 [GRCh38]
Chr4:187206856 [GRCh37]
Chr4:187443850 [NCBI36]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1684G>A (p.Gly562Ser) single nucleotide variant Malignant melanoma [RCV000066373] Chr4:186287791 [GRCh38]
Chr4:187208945 [GRCh37]
Chr4:187445939 [NCBI36]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.100G>C (p.Asp34His) single nucleotide variant not provided [RCV000059001] Chr4:186271653 [GRCh38]
Chr4:187192807 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1021G>A (p.Glu341Lys) single nucleotide variant not provided [RCV000059002] Chr4:186280378 [GRCh38]
Chr4:187201532 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1079T>C (p.Leu360Pro) single nucleotide variant not provided [RCV000059003] Chr4:186280524 [GRCh38]
Chr4:187201678 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1201T>C (p.Trp401Arg) single nucleotide variant not provided [RCV000059004] Chr4:186284157 [GRCh38]
Chr4:187205311 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1207G>A (p.Val403Met) single nucleotide variant Coagulation factor deficiency syndrome [RCV000851583]|not provided [RCV000059005] Chr4:186284163 [GRCh38]
Chr4:187205317 [GRCh37]
Chr4:4q35.2
likely pathogenic|not provided
NM_000128.3(F11):c.127G>A (p.Ala43Thr) single nucleotide variant not provided [RCV000059006] Chr4:186271680 [GRCh38]
Chr4:187192834 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1361T>A (p.Ile454Lys) single nucleotide variant not provided [RCV000059007] Chr4:186285694 [GRCh38]
Chr4:187206848 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.137G>T (p.Cys46Phe) single nucleotide variant not provided [RCV000059008] Chr4:186271690 [GRCh38]
Chr4:187192844 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1442T>G (p.Ile481Ser) single nucleotide variant not provided [RCV000059009] Chr4:186285775 [GRCh38]
Chr4:187206929 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1507T>C (p.Ser503Pro) single nucleotide variant not provided [RCV000059010] Chr4:186286441 [GRCh38]
Chr4:187207595 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666655]|not provided [RCV000059011] Chr4:186286451 [GRCh38]
Chr4:187207605 [GRCh37]
Chr4:4q35.2
uncertain significance|not provided
NM_000128.3(F11):c.151A>C (p.Thr51Pro) single nucleotide variant not provided [RCV000059012] Chr4:186271704 [GRCh38]
Chr4:187192858 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.152C>T (p.Thr51Ile) single nucleotide variant not provided [RCV000059013] Chr4:186271705 [GRCh38]
Chr4:187192859 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1531T>C (p.Tyr511His) single nucleotide variant not provided [RCV000059014] Chr4:186286465 [GRCh38]
Chr4:187207619 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1541G>T (p.Cys514Phe) single nucleotide variant not provided [RCV000059015] Chr4:186286475 [GRCh38]
Chr4:187207629 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1578C>G (p.Asp526Glu) single nucleotide variant not provided [RCV000059016] Chr4:186287685 [GRCh38]
Chr4:187208839 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.159C>A (p.His53Gln) single nucleotide variant not provided [RCV000059017] Chr4:186271712 [GRCh38]
Chr4:187192866 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169135]|not provided [RCV000059018] Chr4:186287800 [GRCh38]
Chr4:187208954 [GRCh37]
Chr4:4q35.2
likely pathogenic|not provided
NM_000128.3(F11):c.1724C>T (p.Ser575Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000454166]|not provided [RCV000059019] Chr4:186288460 [GRCh38]
Chr4:187209614 [GRCh37]
Chr4:4q35.2
likely pathogenic|not provided
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671144]|not provided [RCV000059020] Chr4:186288525 [GRCh38]
Chr4:187209679 [GRCh37]
Chr4:4q35.2
uncertain significance|not provided
NM_000128.3(F11):c.1822T>C (p.Tyr608His) single nucleotide variant Hereditary factor XI deficiency disease [RCV001027677]|not provided [RCV000059021] Chr4:186288558 [GRCh38]
Chr4:187209712 [GRCh37]
Chr4:4q35.2
pathogenic|not provided
NM_000128.3(F11):c.1853T>G (p.Ile618Ser) single nucleotide variant not provided [RCV000059022] Chr4:186288589 [GRCh38]
Chr4:187209743 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.188C>T (p.Ala63Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670641]|not provided [RCV000059023] Chr4:186271741 [GRCh38]
Chr4:187192895 [GRCh37]
Chr4:4q35.2
uncertain significance|not provided
NM_000128.3(F11):c.302A>G (p.Lys101Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000667740]|not provided [RCV000059024] Chr4:186273154 [GRCh38]
Chr4:187194308 [GRCh37]
Chr4:4q35.2
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000128.3(F11):c.419G>A (p.Cys140Tyr) single nucleotide variant not provided [RCV000059025] Chr4:186274209 [GRCh38]
Chr4:187195363 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.452A>G (p.Tyr151Cys) single nucleotide variant not provided [RCV000059026] Chr4:186274242 [GRCh38]
Chr4:187195396 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852186]|not provided [RCV000059027] Chr4:186276299 [GRCh38]
Chr4:187197453 [GRCh37]
Chr4:4q35.2
likely pathogenic|not provided
NM_000128.3(F11):c.683G>A (p.Arg228Gln) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671612]|not provided [RCV000059028] Chr4:186276318 [GRCh38]
Chr4:187197472 [GRCh37]
Chr4:4q35.2
uncertain significance|not provided
NM_000128.3(F11):c.723C>G (p.Phe241Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670643]|not provided [RCV000059029] Chr4:186276358 [GRCh38]
Chr4:187197512 [GRCh37]
Chr4:4q35.2
uncertain significance|not provided
NM_000128.3(F11):c.738G>C (p.Trp246Cys) single nucleotide variant not provided [RCV000059030] Chr4:186276373 [GRCh38]
Chr4:187197527 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.755G>C (p.Arg252Thr) single nucleotide variant not provided [RCV000059031] Chr4:186276390 [GRCh38]
Chr4:187197544 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.764G>A (p.Cys255Tyr) single nucleotide variant not provided [RCV000059032] Chr4:186280020 [GRCh38]
Chr4:187201174 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.788G>A (p.Gly263Glu) single nucleotide variant not provided [RCV000059033] Chr4:186280044 [GRCh38]
Chr4:187201198 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.827C>G (p.Ser276Cys) single nucleotide variant not provided [RCV000059035] Chr4:186280083 [GRCh38]
Chr4:187201237 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.830G>A (p.Gly277Asp) single nucleotide variant not provided [RCV000059036] Chr4:186280086 [GRCh38]
Chr4:187201240 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.943G>A (p.Glu315Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852252]|not provided [RCV000059037] Chr4:186280300 [GRCh38]
Chr4:187201454 [GRCh37]
Chr4:4q35.2
likely pathogenic|not provided
NM_000128.3(F11):c.94G>A (p.Gly32Arg) single nucleotide variant not provided [RCV000059038] Chr4:186271647 [GRCh38]
Chr4:187192801 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.959T>C (p.Leu320Pro) single nucleotide variant not provided [RCV000059039] Chr4:186280316 [GRCh38]
Chr4:187201470 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.965C>T (p.Thr322Ile) single nucleotide variant not provided [RCV000059040] Chr4:186280322 [GRCh38]
Chr4:187201476 [GRCh37]
Chr4:4q35.2
not provided
NM_000128.3(F11):c.992C>T (p.Thr331Ile) single nucleotide variant not provided [RCV000059041] Chr4:186280349 [GRCh38]
Chr4:187201503 [GRCh37]
Chr4:4q35.2
not provided
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Behavioral abnormality [RCV001291982] Chr4:179554876..190916678 [GRCh37]
Chr4:4q34.3-35.2
likely pathogenic
NM_000128.3(F11):c.1560G>T (p.Gly520=) single nucleotide variant not provided [RCV000174448] Chr4:186286494 [GRCh38]
Chr4:187207648 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2
likely pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2
likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1 copy number loss See cases [RCV000135893] Chr4:186187749..189800953 [GRCh38]
Chr4:187108903..190722107 [GRCh37]
Chr4:187345897..190959101 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186037136-186271594)x1 copy number loss See cases [RCV000138100] Chr4:186037136..186271594 [GRCh38]
Chr4:186958290..187192748 [GRCh37]
Chr4:187195284..187429742 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1 copy number loss See cases [RCV000137828] Chr4:186129390..190095391 [GRCh38]
Chr4:187050544..190828225 [GRCh37]
Chr4:187287538..191250527 [NCBI36]
Chr4:4q35.1-35.2
likely benign|uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2
likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 copy number gain See cases [RCV000138568] Chr4:185790027..187829822 [GRCh38]
Chr4:186711181..188750976 [GRCh37]
Chr4:186948175..188987970 [NCBI36]
Chr4:4q35.1-35.2
uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2
uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 copy number loss See cases [RCV000139618] Chr4:185698962..189975613 [GRCh38]
Chr4:186620116..190828225 [GRCh37]
Chr4:186857110..191133762 [NCBI36]
Chr4:4q35.1-35.2
uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 copy number gain See cases [RCV000141422] Chr4:184924265..186578389 [GRCh38]
Chr4:185845419..187499543 [GRCh37]
Chr4:186082413..187736537 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185991833-186443602)x1 copy number loss See cases [RCV000140721] Chr4:185991833..186443602 [GRCh38]
Chr4:186912987..187364756 [GRCh37]
Chr4:187149981..187601750 [NCBI36]
Chr4:4q35.1-35.2
uncertain significance
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2
likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 copy number loss See cases [RCV000141727] Chr4:185290811..187350114 [GRCh38]
Chr4:186211965..188271268 [GRCh37]
Chr4:186448959..188508262 [NCBI36]
Chr4:4q35.1-35.2
likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2
likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 copy number gain See cases [RCV000143575] Chr4:185601825..187530334 [GRCh38]
Chr4:186522979..188451488 [GRCh37]
Chr4:186759973..188688482 [NCBI36]
Chr4:4q35.1-35.2
uncertain significance
NM_000128.3(F11):c.1075del (p.Ile359fs) deletion Hereditary factor XI deficiency disease [RCV000169028]|not provided [RCV001380984] Chr4:186280517 [GRCh38]
Chr4:187201671 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.4(F11):c.961_962del (p.Cys321fs) microsatellite Hereditary factor XI deficiency disease [RCV000169073] Chr4:186280316..186280317 [GRCh38]
Chr4:187201470..187201471 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1186C>T (p.Arg396Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169077] Chr4:186284142 [GRCh38]
Chr4:187205296 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.682C>T (p.Arg228Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169125]|not provided [RCV001310835] Chr4:186276317 [GRCh38]
Chr4:187197471 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.325G>A (p.Ala109Thr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169144]|not provided [RCV001380982] Chr4:186273177 [GRCh38]
Chr4:187194331 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) single nucleotide variant Abnormal bleeding [RCV000851708]|Hereditary factor XI deficiency disease [RCV000169241]|not provided [RCV001247722] Chr4:186286490 [GRCh38]
Chr4:187207644 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.400C>T (p.Gln134Ter) single nucleotide variant Abnormal bleeding [RCV000851775]|Hereditary factor XI deficiency disease [RCV000169273]|Plasma factor XI deficiency [RCV001273716]|not provided [RCV000726287] Chr4:186274190 [GRCh38]
Chr4:187195344 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000128.3(F11):c.408C>A (p.Cys136Ter) single nucleotide variant Abnormal bleeding [RCV000851782]|Hereditary factor XI deficiency disease [RCV000169275] Chr4:186274198 [GRCh38]
Chr4:187195352 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.751C>T (p.Gln251Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169287] Chr4:186276386 [GRCh38]
Chr4:187197540 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.730C>T (p.Gln244Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169501]|not provided [RCV001248521] Chr4:186276365 [GRCh38]
Chr4:187197519 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169527] Chr4:186280552 [GRCh38]
Chr4:187201706 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.67C>T (p.Gln23Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169536]|not provided [RCV000727045] Chr4:186271620 [GRCh38]
Chr4:187192774 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000128.3(F11):c.908del (p.Gly303fs) deletion Hereditary factor XI deficiency disease [RCV000169545]|not provided [RCV001380983] Chr4:186280263 [GRCh38]
Chr4:187201417 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1313C>A (p.Ser438Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169556] Chr4:186285646 [GRCh38]
Chr4:187206800 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000169580] Chr4:186287720 [GRCh38]
Chr4:187208874 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.*928G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000261962] Chr4:186289542 [GRCh38]
Chr4:187210696 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851679]|not provided [RCV000383804] Chr4:186284244 [GRCh38]
Chr4:187205398 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss See cases [RCV000239790] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss See cases [RCV000239851] Chr4:178243625..190713650 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 copy number loss See cases [RCV000240072] Chr4:185941418..189180194 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000763125]|Plasma factor XI deficiency [RCV001273725]|not provided [RCV000349831] Chr4:186286423 [GRCh38]
Chr4:187207577 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000352684]|not provided [RCV000725651] Chr4:186285765 [GRCh38]
Chr4:187206919 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000128.3(F11):c.*296G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000285865] Chr4:186288910 [GRCh38]
Chr4:187210064 [GRCh37]
Chr4:4q35.2
benign
NM_000128.3(F11):c.-54G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000281224]|not provided [RCV001512926] Chr4:186266243 [GRCh38]
Chr4:187187397 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.1431C>T (p.Ser477=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000274360]|Plasma factor XI deficiency [RCV001275732]|not provided [RCV000956272] Chr4:186285764 [GRCh38]
Chr4:187206918 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.3(F11):c.801A>G (p.Thr267=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000302541]|not provided [RCV001512065]|not specified [RCV000241628] Chr4:186280057 [GRCh38]
Chr4:187201211 [GRCh37]
Chr4:4q35.2
benign
NM_000128.3(F11):c.1812G>T (p.Arg604=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000374661]|not provided [RCV001514371]|not specified [RCV000241920] Chr4:186288548 [GRCh38]
Chr4:187209702 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.429C>T (p.Asp143=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000342197]|not provided [RCV001523282]|not specified [RCV000249857] Chr4:186274219 [GRCh38]
Chr4:187195373 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.1839G>A (p.Glu613=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000280113]|not provided [RCV001514372]|not specified [RCV000245099] Chr4:186288575 [GRCh38]
Chr4:187209729 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.1716+12T>C single nucleotide variant not specified [RCV000250151] Chr4:186287835 [GRCh38]
Chr4:187208989 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.3(F11):c.1191T>C (p.Gly397=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000276855]|not provided [RCV001512066]|not specified [RCV000245406] Chr4:186284147 [GRCh38]
Chr4:187205301 [GRCh37]
Chr4:4q35.2
benign
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_000128.3(F11):c.1200G>A (p.Pro400=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000333094]|Plasma factor XI deficiency [RCV001275731]|not provided [RCV000917315] Chr4:186284156 [GRCh38]
Chr4:187205310 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.3(F11):c.*902G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000356777] Chr4:186289516 [GRCh38]
Chr4:187210670 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*265A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000380456] Chr4:186288879 [GRCh38]
Chr4:187210033 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.1707C>T (p.Asp569=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000320132]|not provided [RCV001518082] Chr4:186287814 [GRCh38]
Chr4:187208968 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.*852G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000406299] Chr4:186289466 [GRCh38]
Chr4:187210620 [GRCh37]
Chr4:4q35.2
benign
NM_000128.3(F11):c.*322G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000340844] Chr4:186288936 [GRCh38]
Chr4:187210090 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.1028+9T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000363190]|Plasma factor XI deficiency [RCV001275730]|not provided [RCV000890530] Chr4:186280394 [GRCh38]
Chr4:187201548 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.3(F11):c.*728T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000306985] Chr4:186289342 [GRCh38]
Chr4:187210496 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1016G>T (p.Cys339Phe) single nucleotide variant Hereditary factor XI deficiency disease [RCV000308480]|not provided [RCV000890695] Chr4:186280373 [GRCh38]
Chr4:187201527 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.-326C>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000388399] Chr4:186265971 [GRCh38]
Chr4:187187125 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.-316C>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000294092] Chr4:186265981 [GRCh38]
Chr4:187187135 [GRCh37]
Chr4:4q35.2
benign
NM_000128.3(F11):c.*584A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000346736] Chr4:186289198 [GRCh38]
Chr4:187210352 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.499C>T (p.Leu167=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000391120] Chr4:186275800 [GRCh38]
Chr4:187196954 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.345T>C (p.Tyr115=) single nucleotide variant Hereditary factor XI deficiency disease [RCV000391124] Chr4:186274135 [GRCh38]
Chr4:187195289 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*885G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000311213] Chr4:186289499 [GRCh38]
Chr4:187210653 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.3(F11):c.*479A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000393896] Chr4:186289093 [GRCh38]
Chr4:187210247 [GRCh37]
Chr4:4q35.2
benign
NM_000128.3(F11):c.*822A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000370993] Chr4:186289436 [GRCh38]
Chr4:187210590 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1305-9G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001144918]|Plasma factor XI deficiency [RCV001273724]|not provided [RCV000948289]|not specified [RCV000339440] Chr4:186285629 [GRCh38]
Chr4:187206783 [GRCh37]
Chr4:4q35.2
benign|likely benign|uncertain significance
NM_000128.3(F11):c.*1033A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000267527] Chr4:186289647 [GRCh38]
Chr4:187210801 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000595418] Chr4:186267139 [GRCh38]
Chr4:187188293 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1059C>T (p.Asn353=) single nucleotide variant Plasma factor XI deficiency [RCV001277770]|not provided [RCV001486313] Chr4:186280504 [GRCh38]
Chr4:187201658 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.3(F11):c.*576G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000291545] Chr4:186289190 [GRCh38]
Chr4:187210344 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*262A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000316589] Chr4:186288876 [GRCh38]
Chr4:187210030 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*952G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000317239] Chr4:186289566 [GRCh38]
Chr4:187210720 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.-300C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000349051] Chr4:186265997 [GRCh38]
Chr4:187187151 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1325del (p.Leu442fs) deletion Hereditary factor XI deficiency disease [RCV000387557]|not provided [RCV000817992] Chr4:186285655 [GRCh38]
Chr4:187206809 [GRCh37]
Chr4:4q35.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000128.3(F11):c.219-11T>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000336251] Chr4:186273060 [GRCh38]
Chr4:187194214 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*977_*979delATT microsatellite Hereditary factor XI deficiency disease [RCV000353382] Chr4:186289588..186289590 [GRCh38]
Chr4:187210742..187210744 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.-183T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000375712] Chr4:186266114 [GRCh38]
Chr4:187187268 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.*636A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000393884] Chr4:186289250 [GRCh38]
Chr4:187210404 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.218+4A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000668645]|not provided [RCV000579337] Chr4:186271775 [GRCh38]
Chr4:187192929 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.219G>A (p.Trp73Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000409418] Chr4:186273071 [GRCh38]
Chr4:187194225 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.291del (p.Tyr98fs) deletion Hereditary factor XI deficiency disease [RCV000409581] Chr4:186273141 [GRCh38]
Chr4:187194295 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.218+1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000409767] Chr4:186271772 [GRCh38]
Chr4:187192926 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.486-2A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV000409802]|not provided [RCV000793522] Chr4:186275785 [GRCh38]
Chr4:187196939 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1560dup (p.Tyr521fs) duplication Hereditary factor XI deficiency disease [RCV000409880] Chr4:186286489..186286490 [GRCh38]
Chr4:187207643..187207644 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.326-1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000409991] Chr4:186274115 [GRCh38]
Chr4:187195269 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.964_965del (p.Thr322fs) deletion Hereditary factor XI deficiency disease [RCV000410660] Chr4:186280320..186280321 [GRCh38]
Chr4:187201474..187201475 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1390C>T (p.Gln464Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000410709] Chr4:186285723 [GRCh38]
Chr4:187206877 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1305-1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000410824] Chr4:186285637 [GRCh38]
Chr4:187206791 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.596-7_600del deletion Hereditary factor XI deficiency disease [RCV000411048] Chr4:186276222..186276233 [GRCh38]
Chr4:187197376..187197387 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1778C>T (p.Thr593Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000411281] Chr4:186288514 [GRCh38]
Chr4:187209668 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1789G>T (p.Glu597Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000411308] Chr4:186288525 [GRCh38]
Chr4:187209679 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1232_1235del (p.Thr411fs) deletion Hereditary factor XI deficiency disease [RCV000411516] Chr4:186284186..186284189 [GRCh38]
Chr4:187205340..187205343 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000411689] Chr4:186284203 [GRCh38]
Chr4:187205357 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1676_1682del (p.Ile559fs) deletion Hereditary factor XI deficiency disease [RCV000411882] Chr4:186287783..186287789 [GRCh38]
Chr4:187208937..187208943 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.25_28del (p.His9fs) deletion Hereditary factor XI deficiency disease [RCV000411987] Chr4:186267161..186267164 [GRCh38]
Chr4:187188315..187188318 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1481-1G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000412477] Chr4:186286414 [GRCh38]
Chr4:187207568 [GRCh37]
Chr4:4q35.2
likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 copy number loss See cases [RCV000449363] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 copy number loss See cases [RCV000449221] Chr4:185253508..190713591 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:187093246-187367725)x3 copy number gain See cases [RCV000446601] Chr4:187093246..187367725 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 copy number gain See cases [RCV000446235] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1 copy number loss See cases [RCV000446459] Chr4:186252440..190713591 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851667]|Plasma factor XI deficiency [RCV001273723]|not provided [RCV000428449] Chr4:186284155 [GRCh38]
Chr4:187205309 [GRCh37]
Chr4:4q35.2
likely pathogenic
GRCh37/hg19 4q35.2(chr4:187210595-187476383)x3 copy number gain See cases [RCV000448980] Chr4:187210595..187476383 [GRCh37]
Chr4:4q35.2
benign
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 copy number loss See cases [RCV000512074] Chr4:184852835..190957473 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 copy number gain See cases [RCV000510660] Chr4:185958310..189223175 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_000128.3(F11):c.484C>T (p.Arg162Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668557]|not provided [RCV000494583] Chr4:186274274 [GRCh38]
Chr4:187195428 [GRCh37]
Chr4:4q35.2
likely pathogenic|uncertain significance
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670354] Chr4:186284190 [GRCh38]
Chr4:187205344 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain See cases [RCV000511078] Chr4:176306103..190957473 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1 copy number loss See cases [RCV000510959] Chr4:186349585..190957473 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain See cases [RCV000512153] Chr4:180702769..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
NM_000128.3(F11):c.325+5G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000670123] Chr4:186273182 [GRCh38]
Chr4:187194336 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000128.3(F11):c.1480+2T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000672255] Chr4:186285815 [GRCh38]
Chr4:187206969 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1304+25_1304+28del deletion Hereditary factor XI deficiency disease [RCV000672594] Chr4:186284283..186284286 [GRCh38]
Chr4:187205437..187205440 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.3(F11):c.1084G>A (p.Gly362Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671241] Chr4:186280529 [GRCh38]
Chr4:187201683 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.756A>T (p.Arg252Ser) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671601] Chr4:186280012 [GRCh38]
Chr4:187201166 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.977G>A (p.Arg326His) single nucleotide variant Hereditary factor XI deficiency disease [RCV000665214] Chr4:186280334 [GRCh38]
Chr4:187201488 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.680G>A (p.Gly227Asp) single nucleotide variant Hereditary factor XI deficiency disease [RCV000667883] Chr4:186276315 [GRCh38]
Chr4:187197469 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.422C>T (p.Thr141Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670640] Chr4:186274212 [GRCh38]
Chr4:187195366 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.155dup (p.Tyr52Ter) duplication Hereditary factor XI deficiency disease [RCV000665461] Chr4:186271707..186271708 [GRCh38]
Chr4:187192861..187192862 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) microsatellite Hereditary factor XI deficiency disease [RCV000667125] Chr4:186285708..186285711 [GRCh38]
Chr4:187206862..187206865 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.2T>A (p.Met1Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668218] Chr4:186267138 [GRCh38]
Chr4:187188292 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.755+2T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000668236] Chr4:186276392 [GRCh38]
Chr4:187197546 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
NM_000128.3(F11):c.1135+5G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000668428] Chr4:186280585 [GRCh38]
Chr4:187201739 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.783G>C (p.Glu261Asp) single nucleotide variant Abnormal bleeding [RCV000852218]|Hereditary factor XI deficiency disease [RCV000671496] Chr4:186280039 [GRCh38]
Chr4:187201193 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.449C>T (p.Thr150Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671578] Chr4:186274239 [GRCh38]
Chr4:187195393 [GRCh37]
Chr4:4q35.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000128.3(F11):c.1136-7_1136-4del deletion Hereditary factor XI deficiency disease [RCV000671916]|not provided [RCV000796225] Chr4:186284085..186284088 [GRCh38]
Chr4:187205239..187205242 [GRCh37]
Chr4:4q35.2
pathogenic|likely pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
NM_000128.3(F11):c.644_649del (p.Ile215_Asp216del) deletion Hereditary factor XI deficiency disease [RCV000674279] Chr4:186276276..186276281 [GRCh38]
Chr4:187197430..187197435 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.-456G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000668585] Chr4:186265841 [GRCh38]
Chr4:187186995 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:178771936..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 copy number gain not provided [RCV000682497] Chr4:185017749..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186496069-189142432)x3 copy number gain not provided [RCV000682499] Chr4:186496069..189142432 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q35.2(chr4:187106869-188449414)x3 copy number gain not provided [RCV000682501] Chr4:187106869..188449414 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.2(chr4:187179134-187866865)x3 copy number gain not provided [RCV000682502] Chr4:187179134..187866865 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1472dup (p.Asn491fs) duplication Hereditary factor XI deficiency disease [RCV000674398] Chr4:186285803..186285804 [GRCh38]
Chr4:187206957..187206958 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1481-1G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000666958] Chr4:186286414 [GRCh38]
Chr4:187207568 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.990dup (p.Thr331fs) duplication Hereditary factor XI deficiency disease [RCV000664796] Chr4:186280341..186280342 [GRCh38]
Chr4:187201495..187201496 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1741T>C (p.Cys581Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670634] Chr4:186288477 [GRCh38]
Chr4:187209631 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.990del (p.Phe330fs) deletion Hereditary factor XI deficiency disease [RCV000670636] Chr4:186280342 [GRCh38]
Chr4:187201496 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) duplication Hereditary factor XI deficiency disease [RCV000665098] Chr4:186287726..186287727 [GRCh38]
Chr4:187208880..187208881 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1283C>T (p.Thr428Ile) single nucleotide variant Hereditary factor XI deficiency disease [RCV000670638] Chr4:186284239 [GRCh38]
Chr4:187205393 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1028+1G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV000670861] Chr4:186280386 [GRCh38]
Chr4:187201540 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1329del (p.Val444fs) deletion Hereditary factor XI deficiency disease [RCV000665462] Chr4:186285662 [GRCh38]
Chr4:187206816 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1275G>C (p.Trp425Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671706] Chr4:186284231 [GRCh38]
Chr4:187205385 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1546G>A (p.Val516Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671819] Chr4:186286480 [GRCh38]
Chr4:187207634 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.803G>A (p.Arg268His) single nucleotide variant Hereditary factor XI deficiency disease [RCV000665972] Chr4:186280059 [GRCh38]
Chr4:187201213 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1171G>A (p.Gly391Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000671498] Chr4:186284127 [GRCh38]
Chr4:187205281 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1362_1375del (p.Lys455fs) deletion Hereditary factor XI deficiency disease [RCV000668149] Chr4:186285693..186285706 [GRCh38]
Chr4:187206847..187206860 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1478C>T (p.Thr493Ile) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666697] Chr4:186285811 [GRCh38]
Chr4:187206965 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1217A>C (p.His406Pro) single nucleotide variant Hereditary factor XI deficiency disease [RCV000665450] Chr4:186284173 [GRCh38]
Chr4:187205327 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1103G>C (p.Gly368Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666732] Chr4:186280548 [GRCh38]
Chr4:187201702 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1273T>A (p.Trp425Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666407] Chr4:186284229 [GRCh38]
Chr4:187205383 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.769del (p.Thr259fs) deletion Hereditary factor XI deficiency disease [RCV000668586] Chr4:186280024 [GRCh38]
Chr4:187201178 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1718G>A (p.Gly573Glu) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668664] Chr4:186288454 [GRCh38]
Chr4:187209608 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1724C>A (p.Ser575Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000668701] Chr4:186288460 [GRCh38]
Chr4:187209614 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.55+6delinsGAG indel Hereditary factor XI deficiency disease [RCV000665523] Chr4:186267197 [GRCh38]
Chr4:187188351 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186555741-187379745)x1 copy number loss not provided [RCV000682500] Chr4:186555741..187379745 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
NM_000128.3(F11):c.865+1G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000673837] Chr4:186280122 [GRCh38]
Chr4:187201276 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.16C>T (p.Gln6Ter) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666100] Chr4:186267152 [GRCh38]
Chr4:187188306 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.374A>G (p.Tyr125Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666448] Chr4:186274164 [GRCh38]
Chr4:187195318 [GRCh37]
Chr4:4q35.2
uncertain significance
Single allele deletion not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000664913] Chr4:186276234 [GRCh38]
Chr4:187197388 [GRCh37]
Chr4:4q35.2
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:176493246..190957473 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
NM_000128.3(F11):c.1627G>A (p.Glu543Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000666223] Chr4:186287734 [GRCh38]
Chr4:187208888 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.2(chr4:187210329-187942708)x3 copy number gain not provided [RCV000682503] Chr4:187210329..187942708 [GRCh37]
Chr4:4q35.2
uncertain significance
Single allele duplication not provided [RCV000677955] Chr4:187124385..187638862 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1328G>A (p.Arg443His) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851680] Chr4:186285661 [GRCh38]
Chr4:187206815 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1699G>A (p.Gly567Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851713] Chr4:186287806 [GRCh38]
Chr4:187208960 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1646A>G (p.Tyr549Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852049] Chr4:186287753 [GRCh38]
Chr4:187208907 [GRCh37]
Chr4:4q35.2
uncertain significance
Single allele duplication Autistic disorder of childhood onset [RCV000754289] Chr4:185324779..188495308 [GRCh38]
Chr4:4q35.1-35.2
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 copy number loss not provided [RCV000744226] Chr4:185137253..190915650 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186953813-187201271)x1 copy number loss not provided [RCV000744246] Chr4:186953813..187201271 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_000128.4(F11):c.*174C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146871] Chr4:186288788 [GRCh38]
Chr4:187209942 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.581C>T (p.Ala194Val) single nucleotide variant not provided [RCV000998330] Chr4:186275882 [GRCh38]
Chr4:187197036 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:183245174..190948359 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
NM_000128.4(F11):c.96A>C (p.Gly32=) single nucleotide variant not provided [RCV000942614] Chr4:186271649 [GRCh38]
Chr4:187192803 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.453C>T (p.Tyr151=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001146774]|Plasma factor XI deficiency [RCV001273718]|not provided [RCV000946824] Chr4:186274243 [GRCh38]
Chr4:187195397 [GRCh37]
Chr4:4q35.2
benign|likely benign
NM_000128.4(F11):c.539A>G (p.Lys180Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV001147674]|Plasma factor XI deficiency [RCV001275726]|not provided [RCV000906136] Chr4:186275840 [GRCh38]
Chr4:187196994 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.866-9G>A single nucleotide variant not provided [RCV000880139] Chr4:186280214 [GRCh38]
Chr4:187201368 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.797G>A (p.Ser266Asn) single nucleotide variant Plasma factor XI deficiency [RCV001273719]|not provided [RCV000923545] Chr4:186280053 [GRCh38]
Chr4:187201207 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.861C>T (p.Ile287=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001147678]|Plasma factor XI deficiency [RCV001273721]|not provided [RCV000893366] Chr4:186280117 [GRCh38]
Chr4:187201271 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NC_000004.12:g.(?_186265841)_(186288624_?)del deletion not provided [RCV001033819] Chr4:187186995..187209778 [GRCh37]
Chr4:4q35.2
pathogenic
NC_000004.12:g.(?_186191814)_(186288624_?)del deletion not provided [RCV001031920] Chr4:187112968..187209778 [GRCh37]
Chr4:4q35.2
pathogenic
NC_000004.12:g.(?_186149141)_(186709827_?)del deletion not provided [RCV001032116] Chr4:187070295..187630981 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
NM_000128.4(F11):c.449_450del (p.Thr150fs) deletion not provided [RCV001035928] Chr4:186274239..186274240 [GRCh38]
Chr4:187195393..187195394 [GRCh37]
Chr4:4q35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_000128.3(F11):c.359T>C (p.Met120Thr) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851646] Chr4:186274149 [GRCh38]
Chr4:187195303 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1120T>C (p.Cys374Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851663] Chr4:186280565 [GRCh38]
Chr4:187201719 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1751A>T (p.Asn584Ile) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851718] Chr4:186288487 [GRCh38]
Chr4:187209641 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2
pathogenic
NM_000128.4(F11):c.507C>T (p.His169=) single nucleotide variant not provided [RCV000942749] Chr4:186275808 [GRCh38]
Chr4:187196962 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV000929477] Chr4:186276298 [GRCh38]
Chr4:187197452 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.126C>T (p.Ser42=) single nucleotide variant Plasma factor XI deficiency [RCV001273714]|not provided [RCV000894993] Chr4:186271679 [GRCh38]
Chr4:187192833 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1287C>T (p.Ala429=) single nucleotide variant Plasma factor XI deficiency [RCV001277772]|not provided [RCV000941659] Chr4:186284243 [GRCh38]
Chr4:187205397 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.596-6G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001147675]|Plasma factor XI deficiency [RCV001275727]|not provided [RCV000939256] Chr4:186276225 [GRCh38]
Chr4:187197379 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.1020C>T (p.Asn340=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001151013]|not provided [RCV000963010] Chr4:186280377 [GRCh38]
Chr4:187201531 [GRCh37]
Chr4:4q35.2
benign|uncertain significance
NM_000128.4(F11):c.1717-7G>A single nucleotide variant not provided [RCV000942213] Chr4:186288446 [GRCh38]
Chr4:187209600 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.486-10T>A single nucleotide variant Plasma factor XI deficiency [RCV001275725]|not provided [RCV000941186] Chr4:186275777 [GRCh38]
Chr4:187196931 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_000128.3(F11):c.1137G>C (p.Glu379Asp) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851996] Chr4:186284093 [GRCh38]
Chr4:187205247 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.365G>A (p.Gly122Asp) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851977] Chr4:186274155 [GRCh38]
Chr4:187195309 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.188C>G (p.Ala63Gly) single nucleotide variant not provided [RCV000998328] Chr4:186271741 [GRCh38]
Chr4:187192895 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.595+3A>G single nucleotide variant not provided [RCV000998331] Chr4:186275899 [GRCh38]
Chr4:187197053 [GRCh37]
Chr4:4q35.2
likely pathogenic
NC_000004.12:g.(?_185684754)_(186709827_?)del deletion not provided [RCV000798147] Chr4:185684754..186709827 [GRCh38]
Chr4:186605908..187630981 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:179996712..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.2(chr4:187182119-187216375)x1 copy number loss not provided [RCV000848184] Chr4:187182119..187216375 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.343del (p.Tyr115fs) deletion Hereditary factor XI deficiency disease [RCV000851639] Chr4:186274131 [GRCh38]
Chr4:187195285 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.1106A>G (p.Tyr369Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851658] Chr4:186280551 [GRCh38]
Chr4:187201705 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1772G>C (p.Gly591Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851721] Chr4:186288508 [GRCh38]
Chr4:187209662 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:177189906..190816266 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
NM_000128.4(F11):c.*445C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001147777] Chr4:186289059 [GRCh38]
Chr4:187210213 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.802C>T (p.Arg268Cys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851892] Chr4:186280058 [GRCh38]
Chr4:187201212 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.3(F11):c.1305-5C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV000852014]|not provided [RCV001478183] Chr4:186285633 [GRCh38]
Chr4:187206787 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.*404A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147776] Chr4:186289018 [GRCh38]
Chr4:187210172 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1305-14T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV001151017] Chr4:186285624 [GRCh38]
Chr4:187206778 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1219A>G (p.Thr407Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV001151015] Chr4:186284175 [GRCh38]
Chr4:187205329 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1481-188C>T single nucleotide variant not provided [RCV000938974] Chr4:186286227 [GRCh38]
Chr4:187207381 [GRCh37]
Chr4:4q35.2
benign
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_000128.3(F11):c.1275_1281dup (p.Thr428fs) duplication not provided [RCV000816197] Chr4:186284230..186284231 [GRCh38]
Chr4:187205384..187205385 [GRCh37]
Chr4:4q35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186950482-187204447)x1 copy number loss not provided [RCV000846394] Chr4:186950482..187204447 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
NM_000128.4(F11):c.196C>T (p.Pro66Ser) single nucleotide variant not provided [RCV000998329] Chr4:186271749 [GRCh38]
Chr4:187192903 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1116G>A (p.Arg372=) single nucleotide variant not provided [RCV000998332] Chr4:186280561 [GRCh38]
Chr4:187201715 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.*1039G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001146961] Chr4:186289653 [GRCh38]
Chr4:187210807 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*551A>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001151122] Chr4:186289165 [GRCh38]
Chr4:187210319 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*763T>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001151124] Chr4:186289377 [GRCh38]
Chr4:187210531 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*346A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147775] Chr4:186288960 [GRCh38]
Chr4:187210114 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:178566256..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.2(chr4:187161749-187522422)x3 copy number gain not provided [RCV000849339] Chr4:187161749..187522422 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.2(chr4:187182119-187216375)x1 copy number loss not provided [RCV000848095] Chr4:187182119..187216375 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.2(chr4:187182119-187216375)x1 copy number loss not provided [RCV000848097] Chr4:187182119..187216375 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_000128.3(F11):c.-2G>C single nucleotide variant Hereditary factor XI deficiency disease [RCV000851623] Chr4:186266295 [GRCh38]
Chr4:187187449 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.634G>A (p.Asp212Asn) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851837] Chr4:186276269 [GRCh38]
Chr4:187197423 [GRCh37]
Chr4:4q35.2
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 copy number loss not provided [RCV000846185] Chr4:184648532..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
Single allele deletion Hereditary factor X deficiency disease [RCV000852266] Chr4:187186066..187210839 [GRCh37]
Chr4:4q35.2
likely pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 copy number gain not provided [RCV001005631] Chr4:185785184..188207908 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
NM_000128.4(F11):c.1480+4C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001144920] Chr4:186285817 [GRCh38]
Chr4:187206971 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*846T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV001145016] Chr4:186289460 [GRCh38]
Chr4:187210614 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.1118T>C (p.Leu373Ser) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851662] Chr4:186280563 [GRCh38]
Chr4:187201717 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.3(F11):c.731A>G (p.Gln244Arg) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852201]|Plasma factor XI deficiency [RCV001275729]|not provided [RCV000910039] Chr4:186276366 [GRCh38]
Chr4:187197520 [GRCh37]
Chr4:4q35.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000128.3(F11):c.1192G>A (p.Glu398Lys) single nucleotide variant Hereditary factor XI deficiency disease [RCV000851665] Chr4:186284148 [GRCh38]
Chr4:187205302 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.3(F11):c.728C>T (p.Ser243Phe) single nucleotide variant Hereditary factor XI deficiency disease [RCV000852200] Chr4:186276363 [GRCh38]
Chr4:187197517 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1178C>T (p.Ala393Val) single nucleotide variant Hereditary factor XI deficiency disease [RCV001249353] Chr4:186284134 [GRCh38]
Chr4:187205288 [GRCh37]
Chr4:4q35.2
not provided
NC_000004.12:g.186266133G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001144807] Chr4:186266133 [GRCh38]
Chr4:187187287 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.111G>A (p.Thr37=) single nucleotide variant Plasma factor XI deficiency [RCV001275724]|not provided [RCV000927806] Chr4:186271664 [GRCh38]
Chr4:187192818 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.696T>C (p.His232=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001147677]|Plasma factor XI deficiency [RCV001275728]|not provided [RCV000941666] Chr4:186276331 [GRCh38]
Chr4:187197485 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.*1A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001146870] Chr4:186288615 [GRCh38]
Chr4:187209769 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.642C>T (p.Asn214=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001147676]|not provided [RCV001411425] Chr4:186276277 [GRCh38]
Chr4:187197431 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.*448A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001147778] Chr4:186289062 [GRCh38]
Chr4:187210216 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1843G>A (p.Val615Met) single nucleotide variant Hereditary factor XI deficiency disease [RCV001146869]|Plasma factor XI deficiency [RCV001275733]|not provided [RCV000913811] Chr4:186288579 [GRCh38]
Chr4:187209733 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1008A>G (p.Gln336=) single nucleotide variant not provided [RCV000889211] Chr4:186280365 [GRCh38]
Chr4:187201519 [GRCh37]
Chr4:4q35.2
likely benign
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:179752903..187987047 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
NM_000128.4(F11):c.1416T>C (p.Tyr472=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001144919] Chr4:186285749 [GRCh38]
Chr4:187206903 [GRCh37]
Chr4:4q35.2
uncertain significance
Single allele deletion Hereditary factor XI deficiency disease [RCV001004031] Chr4:187098301..187405880 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
NM_000128.4(F11):c.-70G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001144808] Chr4:186266227 [GRCh38]
Chr4:187187381 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1304+12G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001151016]|not provided [RCV001513257] Chr4:186284272 [GRCh38]
Chr4:187205426 [GRCh37]
Chr4:4q35.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000128.4(F11):c.*933C>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001145018] Chr4:186289547 [GRCh38]
Chr4:187210701 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) single nucleotide variant Hereditary factor XI deficiency disease [RCV001095694] Chr4:186287715 [GRCh38]
Chr4:187208869 [GRCh37]
Chr4:4q35.2
likely pathogenic
NC_000004.12:g.(?_186287674)_(186287834_?)dup duplication not provided [RCV001033578] Chr4:187208828..187208988 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1449del (p.Leu483fs) deletion not provided [RCV001040540] Chr4:186285782 [GRCh38]
Chr4:187206936 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.*884C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001145017] Chr4:186289498 [GRCh38]
Chr4:187210652 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1029-11T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV001151014] Chr4:186280463 [GRCh38]
Chr4:187201617 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*817A>G single nucleotide variant Hereditary factor XI deficiency disease [RCV001151125] Chr4:186289431 [GRCh38]
Chr4:187210585 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.*609C>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001151123] Chr4:186289223 [GRCh38]
Chr4:187210377 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.56-6T>C single nucleotide variant Hereditary factor XI deficiency disease [RCV001146773]|Plasma factor XI deficiency [RCV001280255]|not provided [RCV001393108] Chr4:186271603 [GRCh38]
Chr4:187192757 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.*186C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146873] Chr4:186288800 [GRCh38]
Chr4:187209954 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV001144921] Chr4:186288513 [GRCh38]
Chr4:187209667 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1836C>T (p.Val612=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001144922]|not provided [RCV001452484] Chr4:186288572 [GRCh38]
Chr4:187209726 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NC_000004.12:g.186266064C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001144806] Chr4:186266064 [GRCh38]
Chr4:187187218 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.-57G>A single nucleotide variant Hereditary factor XI deficiency disease [RCV001144809]|Plasma factor XI deficiency [RCV001280254] Chr4:186266240 [GRCh38]
Chr4:187187394 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.1842C>T (p.Tyr614=) single nucleotide variant Hereditary factor XI deficiency disease [RCV001146868]|not provided [RCV001503743] Chr4:186288578 [GRCh38]
Chr4:187209732 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.*175C>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001146872] Chr4:186288789 [GRCh38]
Chr4:187209943 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.-459A>G single nucleotide variant Plasma factor XI deficiency [RCV001280253] Chr4:186265838 [GRCh38]
Chr4:187186992 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) single nucleotide variant Cerebral hemorrhage [RCV001281447] Chr4:186284160 [GRCh38]
Chr4:187205314 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.1028+1G>T single nucleotide variant Hereditary factor XI deficiency disease [RCV001336676] Chr4:186280386 [GRCh38]
Chr4:187201540 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.1028+9T>G single nucleotide variant Plasma factor XI deficiency [RCV001277769]|not provided [RCV001414545] Chr4:186280394 [GRCh38]
Chr4:187201548 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NM_000128.4(F11):c.1716+10del deletion Plasma factor XI deficiency [RCV001277778] Chr4:186287833 [GRCh38]
Chr4:187208987 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1767G>T (p.Leu589=) single nucleotide variant Plasma factor XI deficiency [RCV001277779]|not provided [RCV001392306] Chr4:186288503 [GRCh38]
Chr4:187209657 [GRCh37]
Chr4:4q35.2
likely benign|uncertain significance
NC_000004.11:g.(?_186997774)_(187630981_?)del deletion not provided [RCV001383167] Chr4:186997774..187630981 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
NM_000128.4(F11):c.434A>G (p.His145Arg) single nucleotide variant not provided [RCV001310834] Chr4:186274224 [GRCh38]
Chr4:187195378 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1001C>T (p.Pro334Leu) single nucleotide variant Plasma factor XI deficiency [RCV001277767] Chr4:186280358 [GRCh38]
Chr4:187201512 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1174A>G (p.Thr392Ala) single nucleotide variant Plasma factor XI deficiency [RCV001277771] Chr4:186284130 [GRCh38]
Chr4:187205284 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1609A>T (p.Ile537Leu) single nucleotide variant Plasma factor XI deficiency [RCV001277774] Chr4:186287716 [GRCh38]
Chr4:187208870 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1625A>G (p.Asn542Ser) single nucleotide variant Plasma factor XI deficiency [RCV001277775] Chr4:186287732 [GRCh38]
Chr4:187208886 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.852G>C (p.Arg284Ser) single nucleotide variant Plasma factor XI deficiency [RCV001277766] Chr4:186280108 [GRCh38]
Chr4:187201262 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1709C>G (p.Ala570Gly) single nucleotide variant Plasma factor XI deficiency [RCV001277777] Chr4:186287816 [GRCh38]
Chr4:187208970 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.448A>G (p.Thr150Ala) single nucleotide variant none provided [RCV001289687] Chr4:186274238 [GRCh38]
Chr4:187195392 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.291G>A (p.Gly97=) single nucleotide variant Plasma factor XI deficiency [RCV001277764] Chr4:186273143 [GRCh38]
Chr4:187194297 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1579A>G (p.Lys527Glu) single nucleotide variant Plasma factor XI deficiency [RCV001277773] Chr4:186287686 [GRCh38]
Chr4:187208840 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1683C>T (p.Ala561=) single nucleotide variant Plasma factor XI deficiency [RCV001277776] Chr4:186287790 [GRCh38]
Chr4:187208944 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.536C>T (p.Thr179Met) single nucleotide variant Plasma factor XI deficiency [RCV001277765] Chr4:186275837 [GRCh38]
Chr4:187196991 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1011A>G (p.Ala337=) single nucleotide variant Plasma factor XI deficiency [RCV001277768] Chr4:186280368 [GRCh38]
Chr4:187201522 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1858G>C (p.Glu620Gln) single nucleotide variant not provided [RCV001357306] Chr4:186288594 [GRCh38]
Chr4:187209748 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.1725G>A (p.Ser575=) single nucleotide variant not provided [RCV001395874] Chr4:186288461 [GRCh38]
Chr4:187209615 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.450G>A (p.Thr150=) single nucleotide variant not provided [RCV001421676] Chr4:186274240 [GRCh38]
Chr4:187195394 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1746A>G (p.Lys582=) single nucleotide variant not provided [RCV001310836] Chr4:186288482 [GRCh38]
Chr4:187209636 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.596-9G>A single nucleotide variant not provided [RCV001475193] Chr4:186276222 [GRCh38]
Chr4:187197376 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1716+7G>A single nucleotide variant not provided [RCV001473882] Chr4:186287830 [GRCh38]
Chr4:187208984 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.186G>C (p.Thr62=) single nucleotide variant not provided [RCV001506405] Chr4:186271739 [GRCh38]
Chr4:187192893 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1056A>G (p.Ser352=) single nucleotide variant not provided [RCV001486317] Chr4:186280501 [GRCh38]
Chr4:187201655 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.606G>A (p.Arg202=) single nucleotide variant not provided [RCV001471293] Chr4:186276241 [GRCh38]
Chr4:187197395 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.301_307dup (p.Cys103Ter) duplication not provided [RCV001380981] Chr4:186273152..186273153 [GRCh38]
Chr4:187194306..187194307 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.189G>T (p.Ala63=) single nucleotide variant not provided [RCV001505510] Chr4:186271742 [GRCh38]
Chr4:187192896 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.117C>T (p.Phe39=) single nucleotide variant not provided [RCV001405690] Chr4:186271670 [GRCh38]
Chr4:187192824 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1830C>T (p.Asn610=) single nucleotide variant not provided [RCV001500263] Chr4:186288566 [GRCh38]
Chr4:187209720 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.840A>G (p.Leu280=) single nucleotide variant not provided [RCV001480160] Chr4:186280096 [GRCh38]
Chr4:187201250 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1518T>C (p.Asp506=) single nucleotide variant not provided [RCV001491581] Chr4:186286452 [GRCh38]
Chr4:187207606 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1626C>T (p.Asn542=) single nucleotide variant not provided [RCV001472037] Chr4:186287733 [GRCh38]
Chr4:187208887 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1224C>T (p.Thr408=) single nucleotide variant not provided [RCV001484991] Chr4:186284180 [GRCh38]
Chr4:187205334 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.162A>G (p.Pro54=) single nucleotide variant not provided [RCV001493620] Chr4:186271715 [GRCh38]
Chr4:187192869 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.132G>A (p.Lys44=) single nucleotide variant not provided [RCV001404660] Chr4:186271685 [GRCh38]
Chr4:187192839 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1782C>T (p.Ser594=) single nucleotide variant not provided [RCV001407052] Chr4:186288518 [GRCh38]
Chr4:187209672 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1083C>T (p.His361=) single nucleotide variant not provided [RCV001436309] Chr4:186280528 [GRCh38]
Chr4:187201682 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1525G>A (p.Val509Ile) single nucleotide variant not provided [RCV001424827] Chr4:186286459 [GRCh38]
Chr4:187207613 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1179G>A (p.Ala393=) single nucleotide variant not provided [RCV001404611] Chr4:186284135 [GRCh38]
Chr4:187205289 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1287C>A (p.Ala429=) single nucleotide variant not provided [RCV001436109] Chr4:186284243 [GRCh38]
Chr4:187205397 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.159C>T (p.His53=) single nucleotide variant not provided [RCV001441578] Chr4:186271712 [GRCh38]
Chr4:187192866 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.325+10G>A single nucleotide variant not provided [RCV001444272] Chr4:186273187 [GRCh38]
Chr4:187194341 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.865+1G>A single nucleotide variant not provided [RCV001379034] Chr4:186280122 [GRCh38]
Chr4:187201276 [GRCh37]
Chr4:4q35.2
likely pathogenic
NM_000128.4(F11):c.543C>T (p.Leu181=) single nucleotide variant not provided [RCV001418496] Chr4:186275844 [GRCh38]
Chr4:187196998 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1017C>A (p.Cys339Ter) single nucleotide variant not provided [RCV001390454] Chr4:186280374 [GRCh38]
Chr4:187201528 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.948C>G (p.Ala316=) single nucleotide variant not provided [RCV001427094] Chr4:186280305 [GRCh38]
Chr4:187201459 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.219-10A>T single nucleotide variant not provided [RCV001425758] Chr4:186273061 [GRCh38]
Chr4:187194215 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1717-8C>T single nucleotide variant not provided [RCV001439087] Chr4:186288445 [GRCh38]
Chr4:187209599 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.596-10C>T single nucleotide variant not provided [RCV001408823] Chr4:186276221 [GRCh38]
Chr4:187197375 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1158C>G (p.Pro386=) single nucleotide variant not provided [RCV001425914] Chr4:186284114 [GRCh38]
Chr4:187205268 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1519A>C (p.Arg507=) single nucleotide variant not provided [RCV001409191] Chr4:186286453 [GRCh38]
Chr4:187207607 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.596-5C>T single nucleotide variant not provided [RCV001443170] Chr4:186276226 [GRCh38]
Chr4:187197380 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1521A>G (p.Arg507=) single nucleotide variant not provided [RCV001411589] Chr4:186286455 [GRCh38]
Chr4:187207609 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.866-8C>T single nucleotide variant not provided [RCV001502946] Chr4:186280215 [GRCh38]
Chr4:187201369 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.330C>T (p.Cys110=) single nucleotide variant not provided [RCV001506784] Chr4:186274120 [GRCh38]
Chr4:187195274 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.485+7G>A single nucleotide variant not provided [RCV001503345] Chr4:186274282 [GRCh38]
Chr4:187195436 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1305-10T>G single nucleotide variant not provided [RCV001455616] Chr4:186285628 [GRCh38]
Chr4:187206782 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.537G>A (p.Thr179=) single nucleotide variant not provided [RCV001503661] Chr4:186275838 [GRCh38]
Chr4:187196992 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1560G>A (p.Gly520=) single nucleotide variant not provided [RCV001487340] Chr4:186286494 [GRCh38]
Chr4:187207648 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.114C>T (p.Val38=) single nucleotide variant not provided [RCV001466822] Chr4:186271667 [GRCh38]
Chr4:187192821 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.595+10G>A single nucleotide variant not provided [RCV001481070] Chr4:186275906 [GRCh38]
Chr4:187197060 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.942C>T (p.His314=) single nucleotide variant not provided [RCV001468067] Chr4:186280299 [GRCh38]
Chr4:187201453 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.654C>A (p.Val218=) single nucleotide variant not provided [RCV001490307] Chr4:186276289 [GRCh38]
Chr4:187197443 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1779G>A (p.Thr593=) single nucleotide variant not provided [RCV001481588] Chr4:186288515 [GRCh38]
Chr4:187209669 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1599G>A (p.Gln533=) single nucleotide variant not provided [RCV001520726] Chr4:186287706 [GRCh38]
Chr4:187208860 [GRCh37]
Chr4:4q35.2
benign
NM_000128.4(F11):c.218+7G>A single nucleotide variant not provided [RCV001468747] Chr4:186271778 [GRCh38]
Chr4:187192932 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.756-5G>A single nucleotide variant not provided [RCV001482414] Chr4:186280007 [GRCh38]
Chr4:187201161 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1254C>G (p.Gly418=) single nucleotide variant not provided [RCV001434234] Chr4:186284210 [GRCh38]
Chr4:187205364 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1465del (p.Thr489fs) deletion not provided [RCV001381848] Chr4:186285798 [GRCh38]
Chr4:187206952 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.1324T>C (p.Leu442=) single nucleotide variant not provided [RCV001418098] Chr4:186285657 [GRCh38]
Chr4:187206811 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1255T>A (p.Ser419Thr) single nucleotide variant not provided [RCV001479237] Chr4:186284211 [GRCh38]
Chr4:187205365 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.687C>T (p.Ile229=) single nucleotide variant not provided [RCV001454759] Chr4:186276322 [GRCh38]
Chr4:187197476 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.1788C>T (p.Gly596=) single nucleotide variant not provided [RCV001485381] Chr4:186288524 [GRCh38]
Chr4:187209678 [GRCh37]
Chr4:4q35.2
likely benign
NM_000128.4(F11):c.325+1G>A single nucleotide variant not provided [RCV001386474] Chr4:186273178 [GRCh38]
Chr4:187194332 [GRCh37]
Chr4:4q35.2
pathogenic
NM_000128.4(F11):c.230T>C (p.Val77Ala) single nucleotide variant Hereditary factor XI deficiency disease [RCV001420443] Chr4:186273082 [GRCh38]
Chr4:187194236 [GRCh37]
Chr4:4q35.2
uncertain significance
NM_000128.4(F11):c.755+10T>G single nucleotide variant not provided [RCV001426692] Chr4:186276400 [GRCh38]
Chr4:187197554 [GRCh37]
Chr4:4q35.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3529 AgrOrtholog
COSMIC F11 COSMIC
Ensembl Genes ENSG00000088926 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264691 UniProtKB/TrEMBL
  ENSP00000264692 UniProtKB/Swiss-Prot
  ENSP00000384957 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000397401 UniProtKB/TrEMBL
  ENSP00000424479 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264691 UniProtKB/TrEMBL
  ENST00000264692 UniProtKB/Swiss-Prot
  ENST00000403665 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000452239 UniProtKB/TrEMBL
  ENST00000492972 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000088926 GTEx
HGNC ID HGNC:3529 ENTREZGENE
Human Proteome Map F11 Human Proteome Map
InterPro Apple UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pan_app 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
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2160 UniProtKB/Swiss-Prot
NCBI Gene 2160 ENTREZGENE
OMIM 264900 OMIM
  612416 OMIM
Pfam PAN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27941 PharmGKB
PRINTS APPLEDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE APPLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART APPLE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A411HAZ9_HUMAN UniProtKB/TrEMBL
  D6RB32_HUMAN UniProtKB/TrEMBL
  FA11_HUMAN UniProtKB/Swiss-Prot
  H0Y596_HUMAN UniProtKB/TrEMBL
  P03951 ENTREZGENE
  Q9UEG0_HUMAN UniProtKB/TrEMBL
  X6R3B1_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DP64 UniProtKB/Swiss-Prot
  Q4W5C2 UniProtKB/Swiss-Prot
  Q9Y495 UniProtKB/Swiss-Prot