F10 (coagulation factor X) - Rat Genome Database

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Gene: F10 (coagulation factor X) Homo sapiens
Analyze
Symbol: F10
Name: coagulation factor X
RGD ID: 1342967
HGNC Page HGNC:3528
Description: Enables phospholipid binding activity and serine-type endopeptidase activity. Involved in positive regulation of TOR signaling. Predicted to be located in several cellular components, including Golgi lumen; endoplasmic reticulum lumen; and external side of plasma membrane. Predicted to be active in extracellular space. Implicated in breast cancer and factor X deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: factor X; factor Xa; FX; FXA; prothrombinase; Stuart-Prower factor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,122,799 - 113,149,529 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,122,799 - 113,149,529 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,777,113 - 113,803,843 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,825,114 - 112,851,844 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413112,825,145 - 112,851,842NCBI
Celera1394,603,103 - 94,629,507 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,215,823 - 94,242,228 (+)NCBIHuRef
CHM1_113113,745,235 - 113,771,639 (+)NCBICHM1_1
T2T-CHM13v2.013112,374,457 - 112,401,188 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-Chloro-ortho-phenylenediamine  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acenocoumarol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
aspalathin  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
calcium dichloride  (EXP)
carbamazepine  (ISO)
carbon nanotube  (ISO)
chlorogenic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
cyproconazole  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Difethialone  (ISO)
dioxygen  (ISO)
epoxiconazole  (ISO)
estriol  (EXP)
ethyl biscoumacetate  (ISO)
Ethyl icosapentate  (ISO)
ethylparaben  (EXP)
felbamate  (ISO)
fenthion  (ISO)
ferroheme b  (ISO)
flutamide  (ISO)
fondaparinux  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
gabapentin  (ISO)
gentamycin  (ISO)
gestodene  (EXP)
heme b  (ISO)
heparin  (ISO)
iron(2+) sulfate (anhydrous)  (EXP)
iron(III) citrate  (EXP)
kojic acid  (EXP)
lead(0)  (EXP)
lidocaine  (ISO)
mangiferin  (EXP)
menadione  (ISO)
menaquinone  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
methidathion  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
norethisterone  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenprocoumon  (ISO)
phenytoin  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rivaroxaban  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
varespladib  (EXP)
venom  (EXP)
vitamin E  (EXP)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. Ebbesen LS and Ingerslev J, J Nutr. 2005 Aug;135(8):1836-40.
2. Cross Talk Pathways Between Coagulation and Inflammation. Foley JH and Conway EM, Circ Res. 2016 Apr 29;118(9):1392-408. doi: 10.1161/CIRCRESAHA.116.306853.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. The inhibitors of the tissue factor:factor VII pathway. Golino P Thromb Res. 2002 May 1;106(3):V257-65.
5. Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry. Livnat T, etal., Blood Coagul Fibrinolysis. 2011 Dec;22(8):673-9. doi: 10.1097/MBC.0b013e32834ad785.
6. Effect of dienogest on bleeding time, coagulation, fibrinolysis, and platelet aggregation in female rats. Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101.
7. Blood coagulation. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. Molecular characterization of human factor XSan Antonio. Reddy SV, etal., Blood. 1989 Oct;74(5):1486-90.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Tissue factor and factor v involvement in rat peritoneal fibrosis. Saito H, etal., Perit Dial Int. 2009 May-Jun;29(3):340-51.
16. How it all starts: Initiation of the clotting cascade. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
17. Coagulation and fibrinolysis abnormalities in familial amyloid polyneuropathy. Takahashi R, etal., Amyloid. 2012 Sep;19(3):129-32. doi: 10.3109/13506129.2012.691918. Epub 2012 May 25.
18. Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study. Tinholt M, etal., BMC Cancer. 2014 Nov 19;14:845. doi: 10.1186/1471-2407-14-845.
19. Intracellular proteolytic processing of the two-chain vitamin K-dependent coagulation factor X. Wallin R, etal., Thromb Res. 1994 Mar 15;73(6):395-403.
Additional References at PubMed
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PMID:9689066   PMID:9734641   PMID:9759621   PMID:10391209   PMID:10460162   PMID:10521497   PMID:10746568   PMID:10828960   PMID:11371191   PMID:11560488   PMID:11854268   PMID:11864704  
PMID:11867437   PMID:11914651   PMID:11983337   PMID:12011050   PMID:12036878   PMID:12056907   PMID:12123809   PMID:12163491   PMID:12220193   PMID:12370181   PMID:12379114   PMID:12426309  
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PMID:19851296   PMID:19858193   PMID:19874476   PMID:19895674   PMID:19913121   PMID:19931652   PMID:20062915   PMID:20062929   PMID:20088935   PMID:20088937   PMID:20135059   PMID:20140262  
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Genomics

Comparative Map Data
F10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,122,799 - 113,149,529 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,122,799 - 113,149,529 (+)EnsemblGRCh38hg38GRCh38
GRCh3713113,777,113 - 113,803,843 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613112,825,114 - 112,851,844 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413112,825,145 - 112,851,842NCBI
Celera1394,603,103 - 94,629,507 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,215,823 - 94,242,228 (+)NCBIHuRef
CHM1_113113,745,235 - 113,771,639 (+)NCBICHM1_1
T2T-CHM13v2.013112,374,457 - 112,401,188 (+)NCBIT2T-CHM13v2.0
F10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39813,087,308 - 13,106,676 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl813,087,308 - 13,106,676 (+)EnsemblGRCm39 Ensembl
GRCm38813,037,308 - 13,056,676 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl813,037,308 - 13,056,676 (+)EnsemblGRCm38mm10GRCm38
MGSCv37813,037,308 - 13,056,216 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36813,037,344 - 13,055,877 (+)NCBIMGSCv36mm8
Celera813,205,092 - 13,223,990 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.73NCBI
F10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81683,170,973 - 83,190,280 (-)NCBIGRCr8
mRatBN7.21676,468,834 - 76,488,141 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1676,468,838 - 76,488,141 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1681,749,382 - 81,768,689 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01685,201,959 - 85,221,266 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01680,451,223 - 80,470,556 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01681,803,169 - 81,822,476 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1681,803,110 - 81,822,716 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01681,288,536 - 81,307,842 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41681,327,237 - 81,346,544 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11681,327,502 - 81,346,809 (-)NCBI
Celera1674,274,866 - 74,294,173 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
F10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955404666,165 - 682,538 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955404666,142 - 682,598 (-)NCBIChiLan1.0ChiLan1.0
F10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214114,625,296 - 114,651,858 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113113,310,076 - 113,337,459 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01394,263,202 - 94,289,612 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113113,332,124 - 113,358,660 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13113,332,124 - 113,358,660 (+)Ensemblpanpan1.1panPan2
F10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,585,563 - 60,597,027 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,571,822 - 60,597,024 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2260,297,960 - 60,309,413 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02261,211,249 - 61,222,710 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2261,211,250 - 61,222,699 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12260,709,507 - 60,721,052 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02260,711,813 - 60,723,235 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02260,742,888 - 60,754,688 (+)NCBIUU_Cfam_GSD_1.0
F10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945195,449,719 - 195,476,829 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936472475,333 - 502,377 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936472475,851 - 502,341 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1178,521,598 - 78,538,258 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11178,521,760 - 78,538,256 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21186,197,298 - 86,215,095 (-)NCBISscrofa10.2Sscrofa10.2susScr3
F10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1391,125,097 - 91,154,000 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl391,124,766 - 91,157,376 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604648,141,434 - 48,190,001 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
F10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624793762,330 - 778,282 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624793762,306 - 777,511 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in F10
113 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
F10, THR318MET variation Factor X deficiency [RCV000024077] Chr13:13q34 pathogenic
NM_000504.4(F10):c.1043G>A (p.Trp348Ter) single nucleotide variant Hereditary factor X deficiency disease [RCV000778386] Chr13:113149093 [GRCh38]
Chr13:113803407 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1096C>T (p.Arg366Cys) single nucleotide variant Factor X deficiency [RCV000012833] Chr13:113149146 [GRCh38]
Chr13:113803460 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.814del (p.Ile271_Leu272insTer) deletion Factor X deficiency [RCV000012834] Chr13:113147444 [GRCh38]
Chr13:113801758 [GRCh37]
Chr13:13q34		 pathogenic
E14K single nucleotide variant Factor X deficiency [RCV000012835] Chr13:13q34 pathogenic
NM_000504.4(F10):c.1012G>A (p.Val338Met) single nucleotide variant Factor X deficiency [RCV000012836] Chr13:113149062 [GRCh38]
Chr13:113803376 [GRCh37]
Chr13:13q34		 pathogenic
NM_001312675.2(F10):c.*138C>T single nucleotide variant Factor X deficiency [RCV000012837] Chr13:13q34 pathogenic
NM_000504.4(F10):c.61G>A (p.Gly21Arg) single nucleotide variant Factor X deficiency [RCV000012838]|not provided [RCV002284169] Chr13:13q34 pathogenic
NM_000504.4(F10):c.859A>T (p.Arg287Trp) single nucleotide variant Factor X deficiency [RCV000012839] Chr13:113147490 [GRCh38]
Chr13:113801804 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.1120T>C (p.Ser374Pro) single nucleotide variant Factor X deficiency [RCV000012840] Chr13:113149170 [GRCh38]
Chr13:113803484 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.424G>A (p.Glu142Lys) single nucleotide variant Abnormal bleeding [RCV000852124]|F10-related condition [RCV003924826]|Factor X deficiency [RCV000012841]|Hereditary factor X deficiency disease [RCV001375846]|not provided [RCV001091746]|not specified [RCV000602474] Chr13:113140972 [GRCh38]
Chr13:113795286 [GRCh37]
Chr13:13q34		 pathogenic|likely benign|uncertain significance
NM_000504.4(F10):c.964G>A (p.Asp322Asn) single nucleotide variant Factor X deficiency [RCV000012842] Chr13:13q34 pathogenic
NM_000504.4(F10):c.140A>G (p.Glu47Gly) single nucleotide variant Factor X deficiency [RCV000012843] Chr13:113129521 [GRCh38]
Chr13:113783835 [GRCh37]
Chr13:13q34		 pathogenic
Factor X Ketchikan single nucleotide variant Factor X deficiency [RCV000012844] Chr13:13q34 pathogenic
NM_000504.4(F10):c.214G>C (p.Glu72Gln) single nucleotide variant Factor X deficiency [RCV000012845] Chr13:113129595 [GRCh38]
Chr13:113783909 [GRCh37]
Chr13:13q34		 pathogenic
NM_001312675.2(F10):c.855+10G>C single nucleotide variant Factor x deficiency, autosomal dominant [RCV000012846] Chr13:13q34 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q34(chr13:113084152-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454] Chr13:113084152..114327173 [GRCh38]
Chr13:113738466..115085141 [GRCh37]
Chr13:112786467..114110750 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q34(chr13:112292922-113636272)x3 copy number gain See cases [RCV000053800] Chr13:112292922..113636272 [GRCh38]
Chr13:112947236..114290587 [GRCh37]
Chr13:111995237..113338588 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34		 likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_000504.4(F10):c.792C>T (p.Thr264=) single nucleotide variant Hereditary factor X deficiency disease [RCV000374626]|not provided [RCV001707573]|not specified [RCV000251014] Chr13:113147423 [GRCh38]
Chr13:113801737 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.232-17T>C single nucleotide variant Hereditary factor X deficiency disease [RCV001702380]|not provided [RCV001636749]|not specified [RCV000246279] Chr13:113138440 [GRCh38]
Chr13:113792754 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.878C>T (p.Thr293Met) single nucleotide variant Hereditary factor X deficiency disease [RCV000282484] Chr13:113148928 [GRCh38]
Chr13:113803242 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.747+11G>A single nucleotide variant Hereditary factor X deficiency disease [RCV000322492] Chr13:113144106 [GRCh38]
Chr13:113798420 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.574G>A (p.Gly192Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV000323642]|not provided [RCV000962317] Chr13:113143922 [GRCh38]
Chr13:113798236 [GRCh37]
Chr13:13q34		 benign|likely benign
NM_000504.4(F10):c.399C>T (p.Asn133=) single nucleotide variant Hereditary factor X deficiency disease [RCV000270472]|not provided [RCV000968270] Chr13:113140947 [GRCh38]
Chr13:113795261 [GRCh37]
Chr13:13q34		 benign|likely benign
NM_000504.4(F10):c.348C>T (p.Phe116=) single nucleotide variant Hereditary factor X deficiency disease [RCV000310417] Chr13:113139448 [GRCh38]
Chr13:113793762 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.633C>G (p.Thr211=) single nucleotide variant F10-related condition [RCV003930328]|Hereditary factor X deficiency disease [RCV000265096] Chr13:113143981 [GRCh38]
Chr13:113798295 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000504.4(F10):c.90G>C (p.Gln30His) single nucleotide variant Hereditary factor X deficiency disease [RCV000368932]|not provided [RCV000881749] Chr13:113129471 [GRCh38]
Chr13:113783785 [GRCh37]
Chr13:13q34		 benign|likely benign
NM_000504.4(F10):c.257-12C>T single nucleotide variant Hereditary factor X deficiency disease [RCV000394352] Chr13:113139345 [GRCh38]
Chr13:113793659 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.57G>A (p.Leu19=) single nucleotide variant Hereditary factor X deficiency disease [RCV000394358]|not provided [RCV000906605] Chr13:113122912 [GRCh38]
Chr13:113777226 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000504.4(F10):c.1226C>T (p.Thr409Ile) single nucleotide variant Hereditary factor X deficiency disease [RCV000373557] Chr13:113149276 [GRCh38]
Chr13:113803590 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.7C>T (p.Arg3Cys) single nucleotide variant Hereditary factor X deficiency disease [RCV000351469] Chr13:113122862 [GRCh38]
Chr13:113777176 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.60C>T (p.Leu20=) single nucleotide variant Factor X deficiency [RCV000311873]|not provided [RCV000883994] Chr13:113122915 [GRCh38]
Chr13:113777229 [GRCh37]
Chr13:13q34		 benign|likely benign|uncertain significance
NM_000504.4(F10):c.1215C>T (p.Ala405=) single nucleotide variant Hereditary factor X deficiency disease [RCV000316571] Chr13:113149265 [GRCh38]
Chr13:113803579 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.396C>T (p.Asp132=) single nucleotide variant F10-related condition [RCV003940200]|Hereditary factor X deficiency disease [RCV000362718]|not provided [RCV000903444] Chr13:113140944 [GRCh38]
Chr13:113795258 [GRCh37]
Chr13:13q34		 benign|likely benign|uncertain significance
NM_000504.4(F10):c.1105G>A (p.Glu369Lys) single nucleotide variant not provided [RCV000489706] Chr13:113149155 [GRCh38]
Chr13:113803469 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.902C>T (p.Ala301Val) single nucleotide variant not provided [RCV002286917] Chr13:113148952 [GRCh38]
Chr13:113803266 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.584C>G (p.Pro195Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV000362106] Chr13:113143932 [GRCh38]
Chr13:113798246 [GRCh37]
Chr13:13q34		 uncertain significance
NM_019616.4(F7):c.*673A>G single nucleotide variant Factor VII deficiency [RCV000395401]|Factor X deficiency [RCV000311125] Chr13:113119681 [GRCh38]
Chr13:113773995 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*82T>C single nucleotide variant Factor VII deficiency [RCV000358592]|Factor X deficiency [RCV000314515] Chr13:113119090 [GRCh38]
Chr13:113773404 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*1146A>G single nucleotide variant Factor VII deficiency [RCV000378506]|Factor X deficiency [RCV000317576] Chr13:113120154 [GRCh38]
Chr13:113774468 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*1649G>A single nucleotide variant Factor VII deficiency [RCV000404308]|Factor X deficiency [RCV000323234] Chr13:113120657 [GRCh38]
Chr13:113774971 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*770G>A single nucleotide variant Factor VII deficiency [RCV000395405]|Factor X deficiency [RCV000356621] Chr13:113119778 [GRCh38]
Chr13:113774092 [GRCh37]
Chr13:13q34		 benign
NM_019616.4(F7):c.*533A>C single nucleotide variant Factor VII deficiency [RCV000386699]|Factor X deficiency [RCV000369304] Chr13:113119541 [GRCh38]
Chr13:113773855 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*888G>A single nucleotide variant Factor VII deficiency [RCV000367187]|Factor X deficiency [RCV000262422] Chr13:113119896 [GRCh38]
Chr13:113774210 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*1275A>G single nucleotide variant Factor VII deficiency [RCV000320294]|Factor X deficiency [RCV000268240] Chr13:113120283 [GRCh38]
Chr13:113774597 [GRCh37]
Chr13:13q34		 likely benign
NM_000504.4(F10):c.-40C>T single nucleotide variant Factor VII deficiency [RCV000377919]|Factor X deficiency [RCV000279453]|not provided [RCV001660624] Chr13:113122816 [GRCh38]
Chr13:113777130 [GRCh37]
Chr13:13q34		 benign|likely benign
NM_019616.4(F7):c.1172G>A (p.Arg391Gln) single nucleotide variant Factor VII deficiency [RCV000396014]|Factor X deficiency [RCV000391182]|Myocardial infarction, decreased susceptibility to [RCV000012861]|not specified [RCV000250547] Chr13:113118845 [GRCh38]
Chr13:113773159 [GRCh37]
Chr13:13q34		 risk factor|benign
NM_019616.4(F7):c.*639G>A single nucleotide variant Factor VII deficiency [RCV000283131]|Factor X deficiency [RCV000406253] Chr13:113119647 [GRCh38]
Chr13:113773961 [GRCh37]
Chr13:13q34		 likely benign
NM_019616.4(F7):c.*1240C>G single nucleotide variant Factor VII deficiency [RCV000286328]|Factor X deficiency [RCV000353676] Chr13:113120248 [GRCh38]
Chr13:113774562 [GRCh37]
Chr13:13q34		 likely benign
Single allele deletion Factor X deficiency [RCV001807695] Chr13:110801268..113803893 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q34(chr13:113773532-113801772)x3 copy number gain See cases [RCV000449167] Chr13:113773532..113801772 [GRCh37]
Chr13:13q34		 likely benign
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q34(chr13:113625366-114153873)x1 copy number loss See cases [RCV000446958] Chr13:113625366..114153873 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:113761168-113794870)x3 copy number gain See cases [RCV000446776] Chr13:113761168..113794870 [GRCh37]
Chr13:13q34		 likely benign
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:111550457-115107733)x1 copy number loss See cases [RCV000445865] Chr13:111550457..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q34(chr13:112091743-115092510)x1 copy number loss See cases [RCV000448192] Chr13:112091743..115092510 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q34(chr13:113707657-115107733)x1 copy number loss See cases [RCV000448435] Chr13:113707657..115107733 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_000504.4(F10):c.77T>C (p.Ile26Thr) single nucleotide variant Inborn genetic diseases [RCV003272200] Chr13:113129458 [GRCh38]
Chr13:113783772 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.212T>C (p.Phe71Ser) single nucleotide variant Hereditary factor X deficiency disease [RCV003313881] Chr13:113129593 [GRCh38]
Chr13:113783907 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.119G>C (p.Arg40Thr) single nucleotide variant Hereditary factor X deficiency disease [RCV003313859] Chr13:113129500 [GRCh38]
Chr13:113783814 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q34(chr13:112530842-115107733)x1 copy number loss not provided [RCV000683558] Chr13:112530842..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34		 pathogenic
NM_000504.4(F10):c.1210T>C (p.Cys404Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV000851584] Chr13:113149260 [GRCh38]
Chr13:113803574 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q34(chr13:113554752-113922447)x3 copy number gain not provided [RCV000738399] Chr13:113554752..113922447 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q34(chr13:113657867-113862801)x3 copy number gain not provided [RCV000738400] Chr13:113657867..113862801 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q34(chr13:113674576-113863183)x3 copy number gain not provided [RCV000738401] Chr13:113674576..113863183 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.865+90G>C single nucleotide variant not provided [RCV001680001] Chr13:113147586 [GRCh38]
Chr13:113801900 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.872G>A (p.Arg291Gln) single nucleotide variant Factor X deficiency [RCV000760169]|Hereditary factor X deficiency disease [RCV001375848]|not provided [RCV001805841] Chr13:113148922 [GRCh38]
Chr13:113803236 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.916G>A (p.Glu306Lys) single nucleotide variant Hereditary factor X deficiency disease [RCV001114724] Chr13:113148966 [GRCh38]
Chr13:113803280 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.747+8T>C single nucleotide variant F10-related condition [RCV003936233]|Hereditary factor X deficiency disease [RCV002245816]|not provided [RCV000983129] Chr13:113144103 [GRCh38]
Chr13:113798417 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000504.4(F10):c.147G>A (p.Lys49=) single nucleotide variant not provided [RCV000927767] Chr13:113129528 [GRCh38]
Chr13:113783842 [GRCh37]
Chr13:13q34		 likely benign
NM_000504.4(F10):c.71-8C>T single nucleotide variant Hereditary factor X deficiency disease [RCV001108987]|not provided [RCV000879700] Chr13:113129444 [GRCh38]
Chr13:113783758 [GRCh37]
Chr13:13q34		 benign|likely benign
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34		 pathogenic
NM_000504.4(F10):c.232-2563_503-451del deletion Hereditary factor X deficiency disease [RCV002280380] Chr13:113135894..113143400 [GRCh38]
Chr13:113790208..113797714 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.535C>T (p.Arg179Cys) single nucleotide variant Hereditary factor X deficiency disease [RCV000852155] Chr13:113143883 [GRCh38]
Chr13:113798197 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q34(chr13:113683358-113782136)x3 copy number gain not provided [RCV000846418] Chr13:113683358..113782136 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.161A>G (p.Glu54Gly) single nucleotide variant F10-related condition [RCV003983201]|Factor X deficiency [RCV001824369]|Hereditary factor X deficiency disease [RCV000852044] Chr13:113129542 [GRCh38]
Chr13:113783856 [GRCh37]
Chr13:13q34		 pathogenic|likely pathogenic|uncertain significance
NM_000504.4(F10):c.705C>T (p.Ile235=) single nucleotide variant not provided [RCV001091747] Chr13:113144053 [GRCh38]
Chr13:113798367 [GRCh37]
Chr13:13q34		 likely benign
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34		 not provided
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34		 uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
NM_000504.4(F10):c.400G>A (p.Gly134Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV000851777] Chr13:113140948 [GRCh38]
Chr13:113795262 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) single nucleotide variant Hereditary factor X deficiency disease [RCV000852019] Chr13:113149371 [GRCh38]
Chr13:113803685 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.748-50_865+35del deletion Abnormal bleeding [RCV000852256] Chr13:113147329..113147531 [GRCh38]
Chr13:113801643..113801845 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q34(chr13:113558598-113800840)x3 copy number gain not provided [RCV000845603] Chr13:113558598..113800840 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q34(chr13:111568865-115107733)x1 copy number loss not provided [RCV000846886] Chr13:111568865..115107733 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_000504.4(F10):c.702G>C (p.Arg234Ser) single nucleotide variant Hereditary factor X deficiency disease [RCV000852191] Chr13:113144050 [GRCh38]
Chr13:113798364 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1087G>A (p.Gly363Ser) single nucleotide variant Hereditary factor X deficiency disease [RCV000851652] Chr13:113149137 [GRCh38]
Chr13:113803451 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.160G>A (p.Glu54Lys) single nucleotide variant Factor X deficiency [RCV000852042]|Hereditary factor X deficiency disease [RCV001375847] Chr13:113129541 [GRCh38]
Chr13:113783855 [GRCh37]
Chr13:13q34		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV000851588] Chr13:113149398 [GRCh38]
Chr13:113803712 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) single nucleotide variant Hereditary factor X deficiency disease [RCV000851674] Chr13:113149287 [GRCh38]
Chr13:113803601 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.241T>G (p.Trp81Gly) single nucleotide variant Hereditary factor X deficiency disease [RCV000851750] Chr13:113138466 [GRCh38]
Chr13:113792780 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1036C>T (p.Arg346Cys) single nucleotide variant Hereditary factor X deficiency disease [RCV003313867] Chr13:113149086 [GRCh38]
Chr13:113803400 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.1406G>A (p.Arg469Lys) single nucleotide variant Abnormal bleeding [RCV001270547]|Hereditary factor X deficiency disease [RCV001109102] Chr13:113149456 [GRCh38]
Chr13:113803770 [GRCh37]
Chr13:13q34		 uncertain significance
NC_000013.11:g.113122635C>A single nucleotide variant not provided [RCV001598568] Chr13:113122635 [GRCh38]
Chr13:113776949 [GRCh37]
Chr13:13q34		 benign
NC_000013.11:g.113122633T>C single nucleotide variant not provided [RCV001671561] Chr13:113122633 [GRCh38]
Chr13:113776947 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.865+33A>G single nucleotide variant Hereditary factor X deficiency disease [RCV001702244]|not provided [RCV001687936] Chr13:113147529 [GRCh38]
Chr13:113801843 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.256+98C>A single nucleotide variant not provided [RCV001621028] Chr13:113138579 [GRCh38]
Chr13:113792893 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.1115G>C (p.Arg372Pro) single nucleotide variant Hereditary factor X deficiency disease [RCV001114726]|not provided [RCV000888776] Chr13:113149165 [GRCh38]
Chr13:113803479 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.1032C>T (p.Pro344=) single nucleotide variant Hereditary factor X deficiency disease [RCV001114725]|not provided [RCV003389729] Chr13:113149082 [GRCh38]
Chr13:113803396 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000504.4(F10):c.111G>A (p.Arg37=) single nucleotide variant Hereditary factor X deficiency disease [RCV001111334]|not provided [RCV000890088] Chr13:113129492 [GRCh38]
Chr13:113783806 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q34(chr13:113196617-113800575)x1 copy number loss not provided [RCV002473601] Chr13:113196617..113800575 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.231+89G>A single nucleotide variant not provided [RCV001715459] Chr13:113129701 [GRCh38]
Chr13:113784015 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.70+270A>G single nucleotide variant not provided [RCV001649791] Chr13:113123195 [GRCh38]
Chr13:113777509 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.142A>C (p.Met48Leu) single nucleotide variant Hereditary factor X deficiency disease [RCV001111335] Chr13:113129523 [GRCh38]
Chr13:113783837 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.261C>T (p.Gly87=) single nucleotide variant Hereditary factor X deficiency disease [RCV001111336] Chr13:113139361 [GRCh38]
Chr13:113793675 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.318G>C (p.Gly106=) single nucleotide variant Hereditary factor X deficiency disease [RCV001111337] Chr13:113139418 [GRCh38]
Chr13:113793732 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.646G>A (p.Asp216Asn) single nucleotide variant Hereditary factor X deficiency disease [RCV001113351] Chr13:113143994 [GRCh38]
Chr13:113798308 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.-10C>G single nucleotide variant Hereditary factor X deficiency disease [RCV001108986] Chr13:113122846 [GRCh38]
Chr13:113777160 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.502+288A>G single nucleotide variant not provided [RCV001713826] Chr13:113141338 [GRCh38]
Chr13:113795652 [GRCh37]
Chr13:13q34		 benign
NC_000013.11:g.113122509_113122513TG[2]ATTGTGA[1] microsatellite not provided [RCV001708178] Chr13:113122508..113122509 [GRCh38]
Chr13:113776822..113776823 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.231+64C>T single nucleotide variant not provided [RCV001652826] Chr13:113129676 [GRCh38]
Chr13:113783990 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q34(chr13:113626234-113875062)x3 copy number gain not provided [RCV001006603] Chr13:113626234..113875062 [GRCh37]
Chr13:13q34		 uncertain significance
NC_000013.11:g.113149822C>G single nucleotide variant not provided [RCV001538722] Chr13:113149822 [GRCh38]
Chr13:113804136 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.502+307T>C single nucleotide variant not provided [RCV001709014] Chr13:113141357 [GRCh38]
Chr13:113795671 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.231+295T>G single nucleotide variant not provided [RCV001615738] Chr13:113129907 [GRCh38]
Chr13:113784221 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
NM_000504.4(F10):c.460G>A (p.Gly154Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV001113350] Chr13:113141008 [GRCh38]
Chr13:113795322 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_000504.3(F10):c.-60G>A single nucleotide variant Hereditary factor X deficiency disease [RCV001108985] Chr13:113122796 [GRCh38]
Chr13:113777110 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1347C>T (p.Tyr449=) single nucleotide variant Hereditary factor X deficiency disease [RCV001109101] Chr13:113149397 [GRCh38]
Chr13:113803711 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1415C>T (p.Pro472Leu) single nucleotide variant Hereditary factor X deficiency disease [RCV001109103] Chr13:113149465 [GRCh38]
Chr13:113803779 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q34(chr13:112069981-115107733)x3 copy number gain not provided [RCV001259172] Chr13:112069981..115107733 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q34(chr13:110428062-115107733) copy number loss Neurodevelopmental delay [RCV002280627] Chr13:110428062..115107733 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.1338G>A (p.Lys446=) single nucleotide variant not provided [RCV001311356] Chr13:113149388 [GRCh38]
Chr13:113803702 [GRCh37]
Chr13:13q34		 likely benign
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_000504.4(F10):c.1222G>A (p.Asp408Asn) single nucleotide variant Abnormal bleeding [RCV001270505] Chr13:113149272 [GRCh38]
Chr13:113803586 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) single nucleotide variant Abnormal bleeding [RCV001270526]|Factor X deficiency [RCV001420418] Chr13:113149375 [GRCh38]
Chr13:113803689 [GRCh37]
Chr13:13q34		 likely pathogenic|uncertain significance
NM_000504.4(F10):c.921G>A (p.Val307=) single nucleotide variant not provided [RCV001816133] Chr13:113148971 [GRCh38]
Chr13:113803285 [GRCh37]
Chr13:13q34		 pathogenic|uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_000504.4(F10):c.1247A>T (p.Gln416Leu) single nucleotide variant not provided [RCV001508719] Chr13:113149297 [GRCh38]
Chr13:113803611 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.28C>T (p.Leu10Phe) single nucleotide variant Factor X deficiency [RCV001420383] Chr13:113122883 [GRCh38]
Chr13:113777197 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.80G>A (p.Arg27His) single nucleotide variant Factor X deficiency [RCV001420384] Chr13:113129461 [GRCh38]
Chr13:113783775 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.84G>T (p.Arg28Ser) single nucleotide variant Factor X deficiency [RCV001420412] Chr13:113129465 [GRCh38]
Chr13:113783779 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.89A>G (p.Gln30Arg) single nucleotide variant Factor X deficiency [RCV001420413] Chr13:113129470 [GRCh38]
Chr13:113783784 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.107C>A (p.Ala36Glu) single nucleotide variant Factor X deficiency [RCV001420414] Chr13:113129488 [GRCh38]
Chr13:113783802 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.152G>A (p.Gly51Glu) single nucleotide variant Factor X deficiency [RCV001420415] Chr13:113129533 [GRCh38]
Chr13:113783847 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.513del (p.Cys172fs) deletion Factor X deficiency [RCV001420416] Chr13:113143858 [GRCh38]
Chr13:113798172 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.829T>A (p.Cys277Ser) single nucleotide variant Factor X deficiency [RCV001420417] Chr13:113147460 [GRCh38]
Chr13:113801774 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1387G>C (p.Asp463His) single nucleotide variant Factor X deficiency [RCV001420419] Chr13:113149437 [GRCh38]
Chr13:113803751 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.257-1G>C single nucleotide variant not provided [RCV001378524] Chr13:113139356 [GRCh38]
Chr13:113793670 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.71-42_71-41insAGAGGAGCCTGGGTGA insertion not provided [RCV001534340] Chr13:113129397..113129398 [GRCh38]
Chr13:113783711..113783712 [GRCh37]
Chr13:13q34		 benign
NM_000504.4(F10):c.370+65G>A single nucleotide variant not provided [RCV001714195] Chr13:113139535 [GRCh38]
Chr13:113793849 [GRCh37]
Chr13:13q34		 benign
GRCh37/hg19 13q34(chr13:113536131-113875644)x3 copy number gain not provided [RCV001834277] Chr13:113536131..113875644 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.992C>T (p.Pro331Leu) single nucleotide variant not provided [RCV001773901] Chr13:113149042 [GRCh38]
Chr13:113803356 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_000504.4(F10):c.621C>T (p.Asp207=) single nucleotide variant not provided [RCV001816132] Chr13:113143969 [GRCh38]
Chr13:113798283 [GRCh37]
Chr13:13q34		 likely benign
NC_000013.11:g.109179481_114327244del deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
NM_000504.4(F10):c.1216G>A (p.Gly406Ser) single nucleotide variant Hereditary factor X deficiency disease [RCV001834560] Chr13:113149266 [GRCh38]
Chr13:113803580 [GRCh37]
Chr13:13q34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q34(chr13:113626234-115107733)x3 copy number gain not provided [RCV001827936] Chr13:113626234..115107733 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_000504.4(F10):c.231G>C (p.Thr77=) single nucleotide variant Hereditary factor X deficiency disease [RCV002245312] Chr13:113129612 [GRCh38]
Chr13:113783926 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.162_163del (p.Glu56fs) deletion Hereditary factor X deficiency disease [RCV002245314] Chr13:113129542..113129543 [GRCh38]
Chr13:113783856..113783857 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.1252G>C (p.Asp418His) single nucleotide variant Hereditary factor X deficiency disease [RCV002245315] Chr13:113149302 [GRCh38]
Chr13:113803616 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.205G>A (p.Glu69Lys) single nucleotide variant Hereditary factor X deficiency disease [RCV002245313] Chr13:113129586 [GRCh38]
Chr13:113783900 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.947A>G (p.Lys316Arg) single nucleotide variant Hereditary factor X deficiency disease [RCV002222131]|not provided [RCV003089140] Chr13:113148997 [GRCh38]
Chr13:113803311 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) single nucleotide variant Hereditary factor X deficiency disease [RCV002222132] Chr13:113149401 [GRCh38]
Chr13:113803715 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.1097G>A (p.Arg366His) single nucleotide variant Hereditary factor X deficiency disease [RCV002245316] Chr13:113149147 [GRCh38]
Chr13:113803461 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.837C>A (p.Tyr279Ter) single nucleotide variant Hereditary factor X deficiency disease [RCV002245496] Chr13:113147468 [GRCh38]
Chr13:113801782 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.1073C>T (p.Thr358Met) single nucleotide variant Factor X deficiency [RCV002267785]|Hereditary factor X deficiency disease [RCV002236395] Chr13:113149123 [GRCh38]
Chr13:113803437 [GRCh37]
Chr13:13q34		 pathogenic|likely pathogenic
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1 copy number loss not provided [RCV002474828] Chr13:97142120..115107733 [GRCh37]
Chr13:13q32.1-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_000504.4(F10):c.279T>A (p.Ser93Arg) single nucleotide variant Inborn genetic diseases [RCV002816813] Chr13:113139379 [GRCh38]
Chr13:113793693 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3 copy number gain not provided [RCV002475671] Chr13:99421603..115107733 [GRCh37]
Chr13:13q32.3-34		 pathogenic
NM_000504.4(F10):c.749C>T (p.Ala250Val) single nucleotide variant Inborn genetic diseases [RCV002739875] Chr13:113147380 [GRCh38]
Chr13:113801694 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1369G>A (p.Ala457Thr) single nucleotide variant Inborn genetic diseases [RCV002849901] Chr13:113149419 [GRCh38]
Chr13:113803733 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.174G>A (p.Met58Ile) single nucleotide variant Inborn genetic diseases [RCV002742126] Chr13:113129555 [GRCh38]
Chr13:113783869 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.1270G>C (p.Val424Leu) single nucleotide variant Inborn genetic diseases [RCV003257832] Chr13:113149320 [GRCh38]
Chr13:113803634 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.323A>T (p.Tyr108Phe) single nucleotide variant not specified [RCV003322540] Chr13:113139423 [GRCh38]
Chr13:113793737 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34		 pathogenic
NM_000504.4(F10):c.305_306del (p.Lys102fs) deletion Hereditary factor X deficiency disease [RCV003445231] Chr13:113139404..113139405 [GRCh38]
Chr13:113793718..113793719 [GRCh37]
Chr13:13q34		 likely pathogenic
NC_000013.11:g.113153944C>A single nucleotide variant not provided [RCV003400525] Chr13:113153944 [GRCh38]
Chr13:113808258 [GRCh37]
Chr13:13q34		 likely benign
NM_000504.4(F10):c.299_300del (p.Lys100fs) deletion Hereditary factor X deficiency disease [RCV003445230] Chr13:113139398..113139399 [GRCh38]
Chr13:113793712..113793713 [GRCh37]
Chr13:13q34		 likely pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q34(chr13:113445520-113818780)x3 copy number gain not provided [RCV003484906] Chr13:113445520..113818780 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_000504.4(F10):c.328T>C (p.Cys110Arg) single nucleotide variant not provided [RCV003482111] Chr13:113139428 [GRCh38]
Chr13:113793742 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000504.4(F10):c.270T>A (p.Cys90Ter) single nucleotide variant Hereditary factor X deficiency disease [RCV003445226] Chr13:113139370 [GRCh38]
Chr13:113793684 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.256G>A (p.Asp86Asn) single nucleotide variant Hereditary factor X deficiency disease [RCV003445227] Chr13:113138481 [GRCh38]
Chr13:113792795 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.167A>G (p.Glu56Gly) single nucleotide variant Hereditary factor X deficiency disease [RCV003445228] Chr13:113129548 [GRCh38]
Chr13:113783862 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.248_251del (p.Lys83fs) microsatellite Hereditary factor X deficiency disease [RCV003445229] Chr13:113138469..113138472 [GRCh38]
Chr13:113792783..113792786 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000504.4(F10):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV003411011] Chr13:113122885 [GRCh38]
Chr13:113777199 [GRCh37]
Chr13:13q34		 likely benign
GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1 copy number loss not specified [RCV003987016] Chr13:106591678..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1 copy number loss not specified [RCV003987029] Chr13:103149209..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1 copy number loss not specified [RCV003987036] Chr13:102421732..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1 copy number loss not specified [RCV003987019] Chr13:104389334..115107733 [GRCh37]
Chr13:13q33.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1 copy number loss not specified [RCV003987020] Chr13:105761074..115107733 [GRCh37]
Chr13:13q33.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3 copy number gain not specified [RCV003987031] Chr13:106430837..114763645 [GRCh37]
Chr13:13q33.2-34		 uncertain significance
NM_000504.4(F10):c.1093G>A (p.Gly365Arg) single nucleotide variant F10-related condition [RCV003982748] Chr13:113149143 [GRCh38]
Chr13:113803457 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh37/hg19 13q34(chr13:113158346-115091756)x1 copy number loss not provided [RCV003885459] Chr13:113158346..115091756 [GRCh37]
Chr13:13q34		 pathogenic
NM_000504.4(F10):c.777T>C (p.Gly259=) single nucleotide variant F10-related condition [RCV003904698] Chr13:113147408 [GRCh38]
Chr13:113801722 [GRCh37]
Chr13:13q34		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2360
Count of miRNA genes:885
Interacting mature miRNAs:1075
Transcripts:ENST00000375551, ENST00000375559, ENST00000409306, ENST00000410083, ENST00000477269, ENST00000483537, ENST00000498455
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
F10-888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,803,316 - 113,803,673UniSTSGRCh37
Build 3613112,851,317 - 112,851,674RGDNCBI36
Celera1394,628,980 - 94,629,337RGD
HuRef1394,241,701 - 94,242,058UniSTS
ECD00089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,477 - 113,781,415UniSTSGRCh37
Build 3613112,828,478 - 112,829,416RGDNCBI36
Celera1394,606,467 - 94,607,405RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,187 - 94,220,125UniSTS
ECD00737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,548 - 113,782,439UniSTSGRCh37
Build 3613112,829,549 - 112,830,440RGDNCBI36
Celera1394,607,538 - 94,608,429RGD
Cytogenetic Map13q34UniSTS
HuRef1394,220,258 - 94,221,149UniSTS
ECD04197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,667 - 113,784,438UniSTSGRCh37
Build 3613112,831,668 - 112,832,439RGDNCBI36
Celera1394,609,657 - 94,610,428RGD
Cytogenetic Map13q34UniSTS
HuRef1394,222,377 - 94,223,148UniSTS
ECD05400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,294 - 113,786,030UniSTSGRCh37
Build 3613112,833,295 - 112,834,031RGDNCBI36
Celera1394,611,284 - 94,612,020RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,004 - 94,224,740UniSTS
ECD05745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,092 - 113,786,819UniSTSGRCh37
Build 3613112,834,093 - 112,834,820RGDNCBI36
Celera1394,612,082 - 94,612,809RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,802 - 94,225,529UniSTS
ECD05980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,784,467 - 113,785,187UniSTSGRCh37
Build 3613112,832,468 - 112,833,188RGDNCBI36
Celera1394,610,457 - 94,611,177RGD
Cytogenetic Map13q34UniSTS
HuRef1394,223,177 - 94,223,897UniSTS
ECD06824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,614 - 113,778,311UniSTSGRCh37
Build 3613112,825,615 - 112,826,312RGDNCBI36
Celera1394,603,604 - 94,604,301RGD
Cytogenetic Map13q34UniSTS
HuRef1394,216,324 - 94,217,021UniSTS
ECD07492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,347 - 113,779,026UniSTSGRCh37
Build 3613112,826,348 - 112,827,027RGDNCBI36
Celera1394,604,337 - 94,605,016RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,057 - 94,217,736UniSTS
ECD08352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,999 - 113,776,655UniSTSGRCh37
Build 3613112,824,000 - 112,824,656RGDNCBI36
Celera1394,601,984 - 94,602,639RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,704 - 94,215,359UniSTS
ECD08712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,323 - 113,775,970UniSTSGRCh37
Build 3613112,823,324 - 112,823,971RGDNCBI36
Celera1394,601,308 - 94,601,955RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,028 - 94,214,675UniSTS
ECD11659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,478 - 113,780,043UniSTSGRCh37
Build 3613112,827,479 - 112,828,044RGDNCBI36
Celera1394,605,468 - 94,606,033RGD
Cytogenetic Map13q34UniSTS
HuRef1394,218,188 - 94,218,753UniSTS
ECD13200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,895 - 113,777,418UniSTSGRCh37
Build 3613112,824,896 - 112,825,419RGDNCBI36
Celera1394,602,885 - 94,603,408RGD
Cytogenetic Map13q34UniSTS
HuRef1394,215,605 - 94,216,128UniSTS
REN18458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,118 - 113,775,368UniSTSGRCh37
Build 3613112,823,119 - 112,823,369RGDNCBI36
Celera1394,601,103 - 94,601,353RGD
Cytogenetic Map13q34UniSTS
HuRef1394,213,823 - 94,214,073UniSTS
REN18459  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,331 - 113,775,555UniSTSGRCh37
Build 3613112,823,332 - 112,823,556RGDNCBI36
Celera1394,601,316 - 94,601,540RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,036 - 94,214,260UniSTS
REN18460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,536 - 113,775,763UniSTSGRCh37
Build 3613112,823,537 - 112,823,764RGDNCBI36
Celera1394,601,521 - 94,601,748RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,241 - 94,214,468UniSTS
REN18461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,752 - 113,775,980UniSTSGRCh37
Build 3613112,823,753 - 112,823,981RGDNCBI36
Celera1394,601,737 - 94,601,965RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,457 - 94,214,685UniSTS
REN18462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,956 - 113,776,201UniSTSGRCh37
Build 3613112,823,957 - 112,824,202RGDNCBI36
Celera1394,601,941 - 94,602,186RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,661 - 94,214,906UniSTS
REN18463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,190 - 113,776,444UniSTSGRCh37
Build 3613112,824,191 - 112,824,445RGDNCBI36
Celera1394,602,175 - 94,602,429RGD
Cytogenetic Map13q34UniSTS
HuRef1394,214,895 - 94,215,149UniSTS
REN18464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,436 - 113,776,667UniSTSGRCh37
Build 3613112,824,437 - 112,824,668RGDNCBI36
Celera1394,602,421 - 94,602,651RGD
Cytogenetic Map13q34UniSTS
HuRef1394,215,141 - 94,215,371UniSTS
REN18465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,657 - 113,776,914UniSTSGRCh37
Build 3613112,824,658 - 112,824,915RGDNCBI36
Celera1394,602,641 - 94,602,904RGD
Cytogenetic Map13q34UniSTS
HuRef1394,215,361 - 94,215,624UniSTS
REN18466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,891 - 113,777,133UniSTSGRCh37
Build 3613112,824,892 - 112,825,134RGDNCBI36
Celera1394,602,881 - 94,603,123RGD
Cytogenetic Map13q34UniSTS
HuRef1394,215,601 - 94,215,843UniSTS
REN18467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,070 - 113,777,319UniSTSGRCh37
Build 3613112,825,071 - 112,825,320RGDNCBI36
Celera1394,603,060 - 94,603,309RGD
Cytogenetic Map13q34UniSTS
HuRef1394,215,780 - 94,216,029UniSTS
REN18468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,311 - 113,777,564UniSTSGRCh37
Build 3613112,825,312 - 112,825,565RGDNCBI36
Celera1394,603,301 - 94,603,554RGD
Cytogenetic Map13q34UniSTS
HuRef1394,216,021 - 94,216,274UniSTS
REN18469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,554 - 113,777,811UniSTSGRCh37
Build 3613112,825,555 - 112,825,812RGDNCBI36
Celera1394,603,544 - 94,603,801RGD
Cytogenetic Map13q34UniSTS
HuRef1394,216,264 - 94,216,521UniSTS
REN18470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,808 - 113,778,056UniSTSGRCh37
Build 3613112,825,809 - 112,826,057RGDNCBI36
Celera1394,603,798 - 94,604,046RGD
Cytogenetic Map13q34UniSTS
HuRef1394,216,518 - 94,216,766UniSTS
REN18471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,045 - 113,778,310UniSTSGRCh37
Build 3613112,826,046 - 112,826,311RGDNCBI36
Celera1394,604,035 - 94,604,300RGD
Cytogenetic Map13q34UniSTS
HuRef1394,216,755 - 94,217,020UniSTS
REN18472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,306 - 113,778,544UniSTSGRCh37
Build 3613112,826,307 - 112,826,545RGDNCBI36
Celera1394,604,296 - 94,604,534RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,016 - 94,217,254UniSTS
REN18473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,523 - 113,778,764UniSTSGRCh37
Build 3613112,826,524 - 112,826,765RGDNCBI36
Celera1394,604,513 - 94,604,754RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,233 - 94,217,474UniSTS
REN18474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,744 - 113,778,993UniSTSGRCh37
Build 3613112,826,745 - 112,826,994RGDNCBI36
Celera1394,604,734 - 94,604,983RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,454 - 94,217,703UniSTS
REN18475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,778,971 - 113,779,206UniSTSGRCh37
Build 3613112,826,972 - 112,827,207RGDNCBI36
Celera1394,604,961 - 94,605,196RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,681 - 94,217,916UniSTS
REN18476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,181 - 113,779,432UniSTSGRCh37
Build 3613112,827,182 - 112,827,433RGDNCBI36
Celera1394,605,171 - 94,605,422RGD
Cytogenetic Map13q34UniSTS
HuRef1394,217,891 - 94,218,142UniSTS
REN18477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,423 - 113,779,666UniSTSGRCh37
Build 3613112,827,424 - 112,827,667RGDNCBI36
Celera1394,605,413 - 94,605,656RGD
Cytogenetic Map13q34UniSTS
HuRef1394,218,133 - 94,218,376UniSTS
REN18478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,662 - 113,779,913UniSTSGRCh37
Build 3613112,827,663 - 112,827,914RGDNCBI36
Celera1394,605,652 - 94,605,903RGD
Cytogenetic Map13q34UniSTS
HuRef1394,218,372 - 94,218,623UniSTS
REN18479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,908 - 113,780,146UniSTSGRCh37
Build 3613112,827,909 - 112,828,147RGDNCBI36
Celera1394,605,898 - 94,606,136RGD
Cytogenetic Map13q34UniSTS
HuRef1394,218,618 - 94,218,856UniSTS
REN18480  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,115 - 113,780,343UniSTSGRCh37
Build 3613112,828,116 - 112,828,344RGDNCBI36
Celera1394,606,105 - 94,606,333RGD
Cytogenetic Map13q34UniSTS
HuRef1394,218,825 - 94,219,053UniSTS
REN18481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,326 - 113,780,592UniSTSGRCh37
Build 3613112,828,327 - 112,828,593RGDNCBI36
Celera1394,606,316 - 94,606,582RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,036 - 94,219,302UniSTS
REN18482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,587 - 113,780,835UniSTSGRCh37
Build 3613112,828,588 - 112,828,836RGDNCBI36
Celera1394,606,577 - 94,606,825RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,297 - 94,219,545UniSTS
REN18483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,814 - 113,781,058UniSTSGRCh37
Build 3613112,828,815 - 112,829,059RGDNCBI36
Celera1394,606,804 - 94,607,048RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,524 - 94,219,768UniSTS
REN18484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,036 - 113,781,279UniSTSGRCh37
Build 3613112,829,037 - 112,829,280RGDNCBI36
Celera1394,607,026 - 94,607,269RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,746 - 94,219,989UniSTS
REN18485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,278 - 113,781,529UniSTSGRCh37
Build 3613112,829,279 - 112,829,530RGDNCBI36
Celera1394,607,268 - 94,607,519RGD
Cytogenetic Map13q34UniSTS
HuRef1394,219,988 - 94,220,239UniSTS
REN18486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,487 - 113,781,722UniSTSGRCh37
Build 3613112,829,488 - 112,829,723RGDNCBI36
Celera1394,607,477 - 94,607,712RGD
Cytogenetic Map13q34UniSTS
HuRef1394,220,197 - 94,220,432UniSTS
REN18487  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,674 - 113,781,939UniSTSGRCh37
Build 3613112,829,675 - 112,829,940RGDNCBI36
Celera1394,607,664 - 94,607,929RGD
Cytogenetic Map13q34UniSTS
HuRef1394,220,384 - 94,220,649UniSTS
REN18488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,916 - 113,782,162UniSTSGRCh37
Build 3613112,829,917 - 112,830,163RGDNCBI36
Celera1394,607,906 - 94,608,152RGD
Cytogenetic Map13q34UniSTS
HuRef1394,220,626 - 94,220,872UniSTS
REN18489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,126 - 113,782,386UniSTSGRCh37
Build 3613112,830,127 - 112,830,387RGDNCBI36
Celera1394,608,116 - 94,608,376RGD
Cytogenetic Map13q34UniSTS
HuRef1394,220,836 - 94,221,096UniSTS
REN18490  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,357 - 113,782,581UniSTSGRCh37
Build 3613112,830,358 - 112,830,582RGDNCBI36
Celera1394,608,347 - 94,608,571RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,067 - 94,221,291UniSTS
REN18491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,519 - 113,782,758UniSTSGRCh37
Build 3613112,830,520 - 112,830,759RGDNCBI36
Celera1394,608,509 - 94,608,748RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,229 - 94,221,468UniSTS
REN18492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,685 - 113,782,924UniSTSGRCh37
Build 3613112,830,686 - 112,830,925RGDNCBI36
Celera1394,608,675 - 94,608,914RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,395 - 94,221,634UniSTS
REN18493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,850 - 113,783,100UniSTSGRCh37
Build 3613112,830,851 - 112,831,101RGDNCBI36
Celera1394,608,840 - 94,609,090RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,560 - 94,221,810UniSTS
REN18494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,038 - 113,783,270UniSTSGRCh37
Build 3613112,831,039 - 112,831,271RGDNCBI36
Celera1394,609,028 - 94,609,260RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,748 - 94,221,980UniSTS
REN18495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,226 - 113,783,472UniSTSGRCh37
Build 3613112,831,227 - 112,831,473RGDNCBI36
Celera1394,609,216 - 94,609,462RGD
Cytogenetic Map13q34UniSTS
HuRef1394,221,936 - 94,222,182UniSTS
REN18496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,437 - 113,783,680UniSTSGRCh37
Build 3613112,831,438 - 112,831,681RGDNCBI36
Celera1394,609,427 - 94,609,670RGD
Cytogenetic Map13q34UniSTS
HuRef1394,222,147 - 94,222,390UniSTS
REN18497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,665 - 113,783,925UniSTSGRCh37
Build 3613112,831,666 - 112,831,926RGDNCBI36
Celera1394,609,655 - 94,609,915RGD
Cytogenetic Map13q34UniSTS
HuRef1394,222,375 - 94,222,635UniSTS
REN18498  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,856 - 113,784,111UniSTSGRCh37
Build 3613112,831,857 - 112,832,112RGDNCBI36
Celera1394,609,846 - 94,610,101RGD
Cytogenetic Map13q34UniSTS
HuRef1394,222,566 - 94,222,821UniSTS
REN18499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,784,092 - 113,784,350UniSTSGRCh37
Build 3613112,832,093 - 112,832,351RGDNCBI36
Celera1394,610,082 - 94,610,340RGD
Cytogenetic Map13q34UniSTS
HuRef1394,222,802 - 94,223,060UniSTS
REN18500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,784,336 - 113,784,595UniSTSGRCh37
Build 3613112,832,337 - 112,832,596RGDNCBI36
Celera1394,610,326 - 94,610,585RGD
Cytogenetic Map13q34UniSTS
HuRef1394,223,046 - 94,223,305UniSTS
REN18501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,784,571 - 113,784,817UniSTSGRCh37
Build 3613112,832,572 - 112,832,818RGDNCBI36
Celera1394,610,561 - 94,610,807RGD
Cytogenetic Map13q34UniSTS
HuRef1394,223,281 - 94,223,527UniSTS
REN18502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,784,796 - 113,785,064UniSTSGRCh37
Build 3613112,832,797 - 112,833,065RGDNCBI36
Celera1394,610,786 - 94,611,054RGD
Cytogenetic Map13q34UniSTS
HuRef1394,223,506 - 94,223,774UniSTS
REN18503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,042 - 113,785,298UniSTSGRCh37
Build 3613112,833,043 - 112,833,299RGDNCBI36
Celera1394,611,032 - 94,611,288RGD
Cytogenetic Map13q34UniSTS
HuRef1394,223,752 - 94,224,008UniSTS
REN18504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,291 - 113,785,542UniSTSGRCh37
Build 3613112,833,292 - 112,833,543RGDNCBI36
Celera1394,611,281 - 94,611,532RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,001 - 94,224,252UniSTS
REN18505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,540 - 113,785,797UniSTSGRCh37
Build 3613112,833,541 - 112,833,798RGDNCBI36
Celera1394,611,530 - 94,611,787RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,250 - 94,224,507UniSTS
REN18506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,779 - 113,786,031UniSTSGRCh37
Build 3613112,833,780 - 112,834,032RGDNCBI36
Celera1394,611,769 - 94,612,021RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,489 - 94,224,741UniSTS
REN18507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,019 - 113,786,271UniSTSGRCh37
Build 3613112,834,020 - 112,834,272RGDNCBI36
Celera1394,612,009 - 94,612,261RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,729 - 94,224,981UniSTS
REN18508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,248 - 113,786,504UniSTSGRCh37
Build 3613112,834,249 - 112,834,505RGDNCBI36
Celera1394,612,238 - 94,612,494RGD
Cytogenetic Map13q34UniSTS
HuRef1394,224,958 - 94,225,214UniSTS
REN18509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,480 - 113,786,729UniSTSGRCh37
Build 3613112,834,481 - 112,834,730RGDNCBI36
Celera1394,612,470 - 94,612,719RGD
Cytogenetic Map13q34UniSTS
HuRef1394,225,190 - 94,225,439UniSTS
REN18510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,702 - 113,786,954UniSTSGRCh37
Build 3613112,834,703 - 112,834,955RGDNCBI36
Celera1394,612,692 - 94,612,944RGD
Cytogenetic Map13q34UniSTS
HuRef1394,225,412 - 94,225,664UniSTS
REN18511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,786,931 - 113,787,178UniSTSGRCh37
Build 3613112,834,932 - 112,835,179RGDNCBI36
Celera1394,612,921 - 94,613,168RGD
Cytogenetic Map13q34UniSTS
HuRef1394,225,641 - 94,225,888UniSTS
REN18512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,787,154 - 113,787,402UniSTSGRCh37
Build 3613112,835,155 - 112,835,403RGDNCBI36
Celera1394,613,144 - 94,613,392RGD
Cytogenetic Map13q34UniSTS
HuRef1394,225,864 - 94,226,112UniSTS
REN18513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,787,332 - 113,787,566UniSTSGRCh37
Build 3613112,835,333 - 112,835,567RGDNCBI36
Celera1394,613,322 - 94,613,556RGD
Cytogenetic Map13q34UniSTS
HuRef1394,226,042 - 94,226,276UniSTS
REN18514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,787,465 - 113,787,689UniSTSGRCh37
Build 3613112,835,466 - 112,835,690RGDNCBI36
Celera1394,613,455 - 94,613,679RGD
Cytogenetic Map13q34UniSTS
HuRef1394,226,175 - 94,226,399UniSTS
REN18515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,787,646 - 113,787,902UniSTSGRCh37
Build 3613112,835,647 - 112,835,903RGDNCBI36
Celera1394,613,636 - 94,613,892RGD
Cytogenetic Map13q34UniSTS
HuRef1394,226,356 - 94,226,612UniSTS
REN18516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,787,876 - 113,788,121UniSTSGRCh37
Build 3613112,835,877 - 112,836,122RGDNCBI36
Celera1394,613,866 - 94,614,111RGD
Cytogenetic Map13q34UniSTS
HuRef1394,226,586 - 94,226,831UniSTS
REN18517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,788,089 - 113,788,335UniSTSGRCh37
Build 3613112,836,090 - 112,836,336RGDNCBI36
Celera1394,614,079 - 94,614,325RGD
Cytogenetic Map13q34UniSTS
HuRef1394,226,799 - 94,227,045UniSTS
REN18518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,788,312 - 113,788,556UniSTSGRCh37
Build 3613112,836,313 - 112,836,557RGDNCBI36
Celera1394,614,302 - 94,614,546RGD
Cytogenetic Map13q34UniSTS
HuRef1394,227,022 - 94,227,266UniSTS
REN18519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,788,444 - 113,788,705UniSTSGRCh37
Build 3613112,836,445 - 112,836,706RGDNCBI36
Celera1394,614,434 - 94,614,695RGD
Cytogenetic Map13q34UniSTS
HuRef1394,227,154 - 94,227,415UniSTS
REN18520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,788,679 - 113,788,918UniSTSGRCh37
Build 3613112,836,680 - 112,836,919RGDNCBI36
Celera1394,614,669 - 94,614,908RGD
Cytogenetic Map13q34UniSTS
HuRef1394,227,389 - 94,227,628UniSTS
REN18521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,788,856 - 113,789,080UniSTSGRCh37
Build 3613112,836,857 - 112,837,081RGDNCBI36
Celera1394,614,846 - 94,615,070RGD
Cytogenetic Map13q34UniSTS
HuRef1394,227,566 - 94,227,790UniSTS
REN18522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,789,054 - 113,789,278UniSTSGRCh37
Build 3613112,837,055 - 112,837,279RGDNCBI36
Celera1394,615,044 - 94,615,268RGD
Cytogenetic Map13q34UniSTS
HuRef1394,227,764 - 94,227,988UniSTS
REN18523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,789,606 - 113,789,834UniSTSGRCh37
Build 3613112,837,607 - 112,837,835RGDNCBI36
Celera1394,615,596 - 94,615,824RGD
Cytogenetic Map13q34UniSTS
HuRef1394,228,316 - 94,228,544UniSTS
REN18524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,789,825 - 113,790,052UniSTSGRCh37
Build 3613112,837,826 - 112,838,053RGDNCBI36
Celera1394,615,815 - 94,616,042RGD
Cytogenetic Map13q34UniSTS
HuRef1394,228,535 - 94,228,762UniSTS
REN18525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,790,024 - 113,790,267UniSTSGRCh37
Build 3613112,838,025 - 112,838,268RGDNCBI36
Celera1394,616,014 - 94,616,257RGD
Cytogenetic Map13q34UniSTS
HuRef1394,228,734 - 94,228,977UniSTS
REN18526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,790,111 - 113,790,335UniSTSGRCh37
Build 3613112,838,112 - 112,838,336RGDNCBI36
Celera1394,616,101 - 94,616,325RGD
Cytogenetic Map13q34UniSTS
HuRef1394,228,821 - 94,229,045UniSTS
F10_3215.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,803,302 - 113,803,986UniSTSGRCh37
Build 3613112,851,303 - 112,851,987RGDNCBI36
Celera1394,628,966 - 94,629,650RGD
HuRef1394,241,687 - 94,242,371UniSTS
F10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,803,654 - 113,803,734UniSTSGRCh37
GRCh3713113,803,313 - 113,803,510UniSTSGRCh37
Build 3613112,851,655 - 112,851,735RGDNCBI36
Celera1394,628,977 - 94,629,174UniSTS
Celera1394,629,318 - 94,629,398RGD
HuRef1394,241,698 - 94,241,895UniSTS
HuRef1394,242,039 - 94,242,119UniSTS
RH71376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,803,661 - 113,803,821UniSTSGRCh37
Build 3613112,851,662 - 112,851,822RGDNCBI36
Celera1394,629,325 - 94,629,485RGD
Cytogenetic Map13q34UniSTS
HuRef1394,242,046 - 94,242,206UniSTS
GeneMap99-GB4 RH Map13316.18UniSTS
NCBI RH Map131046.6UniSTS
stSG621987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,775,495 - 113,776,939UniSTSGRCh37
Build 3613112,823,496 - 112,824,940RGDNCBI36
Celera1394,601,480 - 94,602,929RGD
HuRef1394,214,200 - 94,215,649UniSTS
stSG621988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,776,920 - 113,777,980UniSTSGRCh37
Build 3613112,824,921 - 112,825,981RGDNCBI36
Celera1394,602,910 - 94,603,970RGD
HuRef1394,215,630 - 94,216,690UniSTS
stSG621989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,777,964 - 113,779,026UniSTSGRCh37
Build 3613112,825,965 - 112,827,027RGDNCBI36
Celera1394,603,954 - 94,605,016RGD
HuRef1394,216,674 - 94,217,736UniSTS
stSG621990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,779,014 - 113,780,043UniSTSGRCh37
Build 3613112,827,015 - 112,828,044RGDNCBI36
Celera1394,605,004 - 94,606,033RGD
HuRef1394,217,724 - 94,218,753UniSTS
stSG621991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,780,022 - 113,781,130UniSTSGRCh37
Build 3613112,828,023 - 112,829,131RGDNCBI36
Celera1394,606,012 - 94,607,120RGD
HuRef1394,218,732 - 94,219,840UniSTS
stSG621992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,781,111 - 113,782,242UniSTSGRCh37
Build 3613112,829,112 - 112,830,243RGDNCBI36
Celera1394,607,101 - 94,608,232RGD
HuRef1394,219,821 - 94,220,952UniSTS
stSG621993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,782,223 - 113,783,686UniSTSGRCh37
Build 3613112,830,224 - 112,831,687RGDNCBI36
Celera1394,608,213 - 94,609,676RGD
HuRef1394,220,933 - 94,222,396UniSTS
stSG621994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,783,722 - 113,785,150UniSTSGRCh37
Build 3613112,831,723 - 112,833,151RGDNCBI36
Celera1394,609,712 - 94,611,140RGD
HuRef1394,222,432 - 94,223,860UniSTS
stSG621995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,131 - 113,786,204UniSTSGRCh37
Build 3613112,833,132 - 112,834,205RGDNCBI36
Celera1394,611,121 - 94,612,194RGD
HuRef1394,223,841 - 94,224,914UniSTS
stSG621996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,785,832 - 113,786,831UniSTSGRCh37
Build 3613112,833,833 - 112,834,832RGDNCBI36
Celera1394,611,822 - 94,612,821RGD
HuRef1394,224,542 - 94,225,541UniSTS
F10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713113,803,654 - 113,803,734UniSTSGRCh37
GRCh3713113,803,313 - 113,803,510UniSTSGRCh37
Build 3613112,851,655 - 112,851,735RGDNCBI36
Celera1394,628,977 - 94,629,174UniSTS
Celera1394,629,318 - 94,629,398RGD
HuRef1394,241,698 - 94,241,895UniSTS
HuRef1394,242,039 - 94,242,119UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 1 1
Medium 656 1415 856 446 66 435 2476 357 513 78 1017 827 16 1 894 1527 2
Low 1726 845 846 172 533 21 1814 1762 2882 288 358 646 152 310 1240 2 2
Below cutoff 47 573 13 3 824 5 48 44 316 41 53 90 6 21 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001312674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001312675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF503510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB158437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS355178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K01886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M33297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M92096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000375551   ⟹   ENSP00000364701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,814 - 113,149,527 (+)Ensembl
RefSeq Acc Id: ENST00000375559   ⟹   ENSP00000364709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,799 - 113,149,529 (+)Ensembl
RefSeq Acc Id: ENST00000409306   ⟹   ENSP00000387092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,814 - 113,149,462 (+)Ensembl
RefSeq Acc Id: ENST00000410083   ⟹   ENSP00000386320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,838 - 113,147,472 (+)Ensembl
RefSeq Acc Id: ENST00000477269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,819 - 113,144,218 (+)Ensembl
RefSeq Acc Id: ENST00000483537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,122,836 - 113,130,306 (+)Ensembl
RefSeq Acc Id: ENST00000498455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,140,520 - 113,147,451 (+)Ensembl
RefSeq Acc Id: NM_000504   ⟹   NP_000495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,122,799 - 113,149,529 (+)NCBI
GRCh3713113,777,113 - 113,803,843 (+)ENTREZGENE
Build 3613112,825,114 - 112,851,844 (+)NCBI Archive
HuRef1394,215,823 - 94,242,228 (+)ENTREZGENE
CHM1_113113,745,235 - 113,771,639 (+)NCBI
T2T-CHM13v2.013112,374,457 - 112,401,188 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001312674   ⟹   NP_001299603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,122,799 - 113,149,529 (+)NCBI
CHM1_113113,745,235 - 113,771,639 (+)NCBI
T2T-CHM13v2.013112,374,457 - 112,401,188 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001312675   ⟹   NP_001299604
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,122,799 - 113,149,529 (+)NCBI
CHM1_113113,745,235 - 113,771,639 (+)NCBI
T2T-CHM13v2.013112,374,457 - 112,401,188 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000495   ⟸   NM_000504
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q14340 (UniProtKB/Swiss-Prot),   P00742 (UniProtKB/Swiss-Prot),   Q5JVE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001299604   ⟸   NM_001312675
- Peptide Label: isoform 3 precursor
- UniProtKB: Q5JVE8 (UniProtKB/TrEMBL),   B7ZBK1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001299603   ⟸   NM_001312674
- Peptide Label: isoform 2 precursor
- UniProtKB: P00742 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000386320   ⟸   ENST00000410083
RefSeq Acc Id: ENSP00000364701   ⟸   ENST00000375551
RefSeq Acc Id: ENSP00000364709   ⟸   ENST00000375559
RefSeq Acc Id: ENSP00000387092   ⟸   ENST00000409306
Protein Domains
EGF-like   Gla   Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00742-F1-model_v2 AlphaFold P00742 1-488 view protein structure

Promoters
RGD ID:6815062
Promoter ID:HG_MRA:4491
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:K01886
Position:
Human AssemblyChrPosition (strand)Source
Build 3613112,841,331 - 112,841,831 (+)MPROMDB
RGD ID:7226875
Promoter ID:EPDNEW_H19184
Type:initiation region
Name:F10_1
Description:coagulation factor X
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,122,810 - 113,122,870EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3528 AgrOrtholog
COSMIC F10 COSMIC
Ensembl Genes ENSG00000126218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375551 ENTREZGENE
  ENST00000375551.7 UniProtKB/TrEMBL
  ENST00000375559 ENTREZGENE
  ENST00000375559.8 UniProtKB/Swiss-Prot
  ENST00000409306.5 UniProtKB/TrEMBL
  ENST00000410083.6 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126218 GTEx
HGNC ID HGNC:3528 ENTREZGENE
Human Proteome Map F10 Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA-like_dom_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S1A_FX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2159 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2159 ENTREZGENE
OMIM 613872 OMIM
PANTHER COAGULATION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COAGULATION FACTOR X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gla UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB F10 RGD, PharmGKB
PIRSF Factor_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGFBLOOD UniProtKB/TrEMBL
  GLABLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZBK1 ENTREZGENE, UniProtKB/TrEMBL
  F8WBM7_HUMAN UniProtKB/TrEMBL
  FA10_HUMAN UniProtKB/Swiss-Prot
  O15095_HUMAN UniProtKB/TrEMBL
  P00742 ENTREZGENE
  Q14340 ENTREZGENE
  Q5JVE7 ENTREZGENE, UniProtKB/TrEMBL
  Q5JVE8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14340 UniProtKB/Swiss-Prot