F13A1 (coagulation factor XIII A chain) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: F13A1 (coagulation factor XIII A chain) Homo sapiens
Analyze
Symbol: F13A1
Name: coagulation factor XIII A chain
RGD ID: 732286
HGNC Page HGNC
Description: Enables protein-glutamine gamma-glutamyltransferase activity. Involved in blood coagulation, fibrin clot formation and peptide cross-linking. Located in blood microparticle and collagen-containing extracellular matrix. Implicated in artery disease (multiple); factor XIII deficiency; priapism; and thrombophilia (multiple). Biomarker of B-lymphoblastic leukemia/lymphoma; Crohn's disease; and diabetic retinopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bA525O21.1 (coagulation factor XIII, A1 polypeptide); coagulation factor XIII, A polypeptide; coagulation factor XIII, A1 polypeptide; coagulation factor XIIIa; F13A; factor XIIIa; fibrin stabilizing factor, A subunit; fibrinoligase; FSF, A subunit; protein-glutamine gamma-glutamyltransferase A chain; TGase; transglutaminase A chain; transglutaminase. plasma
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
Is Marker For: QTLs:   PRSTS5_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl66,144,084 - 6,321,013 (-)EnsemblGRCh38hg38GRCh38
GRCh3866,144,084 - 6,320,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3766,144,317 - 6,320,895 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3666,089,310 - 6,265,923 (-)NCBINCBI36hg18NCBI36
Build 3466,089,316 - 6,265,901NCBI
Celera67,372,733 - 7,550,578 (-)NCBI
Cytogenetic Map6p25.1NCBI
HuRef66,020,217 - 6,197,010 (-)NCBIHuRef
CHM1_166,146,854 - 6,323,031 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chrysene  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
eugenol  (EXP)
genistein  (ISO)
graphite  (ISO)
indole-3-methanol  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
lead diacetate  (EXP)
medroxyprogesterone acetate  (EXP)
mercaptopurine  (ISO)
metacetamol  (ISO)
methotrexate  (EXP)
mifepristone  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pravastatin  (ISO)
progesterone  (EXP)
purine-6-thiol  (ISO)
raloxifene  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
succimer  (EXP)
sulforaphane  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vitamin D  (EXP)
vorinostat  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. Anwar R and Langlois S, Br J Haematol. 2009 Jun;146(1):118-20. doi: 10.1111/j.1365-2141.2009.07700.x. Epub 2009 Apr 27.
2. Board P, etal., Blood 1992 Aug 15;80(4):937-41.
3. Boeri D, etal., Diabetes. 2001 Jun;50(6):1432-9.
4. Butt C, etal., Blood. 2003 Apr 15;101(8):3037-41. Epub 2002 Dec 12.
5. Catto AJ, etal., Blood. 1999 Feb 1;93(3):906-8.
6. Catto AJ, etal., Stroke. 1998 Apr;29(4):813-6.
7. Corral J, etal., Hematol J. 2000;1(4):269-73.
8. D'Argenio G, etal., Digestion 2001;63(4):220-8.
9. Elliott L, etal., Br J Haematol. 2007 May;137(3):262-7.
10. Gemmati D, etal., Am J Hematol. 2001 Jul;67(3):183-8.
11. GOA_HUMAN data from the GO Consortium
12. Ivaskevicius V, etal., Ann Hematol. 2013 Jul;92(7):975-9. doi: 10.1007/s00277-013-1724-2. Epub 2013 Mar 19.
13. Ivaskevicius V, etal., Haematologica. 2010 Jun;95(6):956-62. doi: 10.3324/haematol.2009.017210. Epub 2010 Feb 23.
14. Katona E, etal., Haemophilia. 2014 Jan;20(1):114-20. doi: 10.1111/hae.12267. Epub 2013 Oct 1.
15. Kiss F, etal., Thromb Haemost. 2006 Aug;96(2):176-82.
16. Koseki-Kuno S, etal., Blood. 2003 Dec 15;102(13):4410-2. Epub 2003 Aug 21.
17. Kucher N, etal., Thromb Haemost. 2003 Sep;90(3):434-8.
18. Lauer P, etal., Thromb Haemost. 2002 Dec;88(6):967-74.
19. Louhichi N, etal., Ann Hematol. 2010 May;89(5):499-504. doi: 10.1007/s00277-009-0863-y. Epub 2009 Nov 24.
20. Mikkola H, etal., Blood. 1994 Jul 15;84(2):517-25.
21. Mosesson MW J Thromb Haemost. 2005 Aug;3(8):1894-904.
22. OMIM Disease Annotation Pipeline
23. Oshitani N, etal., Am J Gastroenterol. 1995 Jul;90(7):1116-8.
24. Pipeline to import KEGG annotations from KEGG into RGD
25. Pipeline to import SMPDB annotations from SMPDB into RGD
26. Reiner AP, etal., Stroke. 2001 Nov;32(11):2580-6.
27. Renner W, etal., Int Angiol. 2002 Mar;21(1):53-7.
28. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. RGD automated import pipeline for gene-chemical interactions
30. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. Song JW, etal., Yonsei Med J. 2006 Apr 30;47(2):196-200.
32. Tsujimoto I, etal., Am J Pathol. 2011 Dec;179(6):3011-9. doi: 10.1016/j.ajpath.2011.08.037. Epub 2011 Oct 19.
33. Van Hylckama Vlieg A, etal., Br J Haematol. 2002 Oct;119(1):169-75.
34. Wang W, etal., J Hum Genet. 2011 Jun;56(6):460-3. doi: 10.1038/jhg.2011.41. Epub 2011 Apr 21.
Additional References at PubMed
PMID:1644910   PMID:2009280   PMID:2184890   PMID:2365049   PMID:2491853   PMID:2866798   PMID:2877456   PMID:2877457   PMID:2901091   PMID:2903011   PMID:3026437   PMID:4811064  
PMID:7660355   PMID:7727776   PMID:7873582   PMID:7913750   PMID:7913909   PMID:7918041   PMID:7920263   PMID:8547636   PMID:8797098   PMID:8905624   PMID:8989823   PMID:9469423  
PMID:9515726   PMID:9531593   PMID:9546612   PMID:9712293   PMID:9721590   PMID:9763561   PMID:9988734   PMID:10027709   PMID:10391209   PMID:10801785   PMID:10828988   PMID:10956659  
PMID:10958788   PMID:10963790   PMID:11154123   PMID:11154124   PMID:11167856   PMID:11307805   PMID:11372678   PMID:11380452   PMID:11834540   PMID:11841441   PMID:11853093   PMID:11916071  
PMID:11961312   PMID:11963567   PMID:12072871   PMID:12100162   PMID:12373334   PMID:12456499   PMID:12477932   PMID:12486862   PMID:12526104   PMID:12542492   PMID:12632025   PMID:12725605  
PMID:12757770   PMID:12816904   PMID:12859294   PMID:12861374   PMID:12878486   PMID:12958613   PMID:14593529   PMID:14604285   PMID:14630798   PMID:14706682   PMID:14870915   PMID:15065858  
PMID:15131115   PMID:15219459   PMID:15333035   PMID:15342556   PMID:15350843   PMID:15364237   PMID:15386532   PMID:15387436   PMID:15453833   PMID:15456491   PMID:15489334   PMID:15533380  
PMID:15534175   PMID:15618543   PMID:15629368   PMID:15644629   PMID:15692256   PMID:15831156   PMID:15968394   PMID:16102108   PMID:16113789   PMID:16192348   PMID:16330458   PMID:16335952  
PMID:16368540   PMID:16456856   PMID:16501286   PMID:16525568   PMID:16567932   PMID:16635210   PMID:16740590   PMID:16763156   PMID:16765424   PMID:16820332   PMID:16844105   PMID:16857944  
PMID:16881935   PMID:16882823   PMID:16911684   PMID:16920044   PMID:16938111   PMID:16945500   PMID:16950433   PMID:16988547   PMID:17003923   PMID:17107352   PMID:17111197   PMID:17156138  
PMID:17183677   PMID:17195962   PMID:17230042   PMID:17241179   PMID:17250879   PMID:17288735   PMID:17296595   PMID:17334514   PMID:17393027   PMID:17433418   PMID:17476115   PMID:17488662  
PMID:17515963   PMID:17516146   PMID:17549290   PMID:17568659   PMID:17582472   PMID:17597187   PMID:17621488   PMID:17691819   PMID:17704111   PMID:17880458   PMID:17895511   PMID:17899444  
PMID:17927806   PMID:17975119   PMID:17982641   PMID:17994314   PMID:18000871   PMID:18004208   PMID:18006701   PMID:18028394   PMID:18057060   PMID:18173921   PMID:18378576   PMID:18521512  
PMID:18808204   PMID:18848323   PMID:18927546   PMID:18930220   PMID:18974842   PMID:19008959   PMID:19023099   PMID:19061349   PMID:19064572   PMID:19072566   PMID:19190815   PMID:19336370  
PMID:19395327   PMID:19415820   PMID:19422454   PMID:19477035   PMID:19560472   PMID:19572072   PMID:19604232   PMID:19660184   PMID:19691486   PMID:19729601   PMID:19778283   PMID:19783216  
PMID:19784898   PMID:19787322   PMID:19804366   PMID:19826759   PMID:19860767   PMID:19906129   PMID:19913121   PMID:19923980   PMID:19948975   PMID:19958990   PMID:19967163   PMID:20044141  
PMID:20051843   PMID:20086247   PMID:20093496   PMID:20113359   PMID:20161734   PMID:20211923   PMID:20227257   PMID:20237496   PMID:20301327   PMID:20379614   PMID:20384622   PMID:20425806  
PMID:20452482   PMID:20532202   PMID:20532885   PMID:20553949   PMID:20609463   PMID:20628086   PMID:20634891   PMID:20664907   PMID:20673868   PMID:20680227   PMID:20822334   PMID:20941461  
PMID:21116278   PMID:21131589   PMID:21224475   PMID:21548851   PMID:21640452   PMID:21640701   PMID:21655673   PMID:21658166   PMID:21757696   PMID:21798378   PMID:21873635   PMID:21900206  
PMID:21901231   PMID:21901234   PMID:21939789   PMID:22030394   PMID:22154241   PMID:22156982   PMID:22169303   PMID:22234358   PMID:22329719   PMID:22398040   PMID:22434605   PMID:22516433  
PMID:22565190   PMID:22578139   PMID:22633530   PMID:22909010   PMID:22909824   PMID:22931734   PMID:23052999   PMID:23075332   PMID:23279035   PMID:23303819   PMID:23381943   PMID:23518792  
PMID:23541322   PMID:23677728   PMID:23929307   PMID:24042156   PMID:24142643   PMID:24216108   PMID:24246248   PMID:24324551   PMID:24329762   PMID:24443567   PMID:24476525   PMID:24532105  
PMID:24667918   PMID:24686102   PMID:24702949   PMID:24889649   PMID:24934257   PMID:24934276   PMID:25004025   PMID:25037231   PMID:25331118   PMID:25365500   PMID:25384012   PMID:25740658  
PMID:25809477   PMID:25862345   PMID:25896761   PMID:25947356   PMID:26035561   PMID:26083359   PMID:26121426   PMID:26324704   PMID:26359437   PMID:26540128   PMID:26743168   PMID:26802299  
PMID:26852661   PMID:26951791   PMID:27207415   PMID:27363989   PMID:27392853   PMID:27519977   PMID:27561317   PMID:27665853   PMID:28344315   PMID:28520207   PMID:28675934   PMID:28683377  
PMID:28873247   PMID:28978253   PMID:29363996   PMID:29424810   PMID:29484525   PMID:29675848   PMID:29777108   PMID:30185149   PMID:30223472   PMID:30409906   PMID:30419598   PMID:30706822  
PMID:30773828   PMID:30972713   PMID:31315570   PMID:31383913   PMID:31493396   PMID:31530188   PMID:31914974   PMID:32060721   PMID:32586241   PMID:32814053   PMID:33161719   PMID:33167412  
PMID:33540604   PMID:33555692   PMID:34357004  


Genomics

Comparative Map Data
F13A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl66,144,084 - 6,321,013 (-)EnsemblGRCh38hg38GRCh38
GRCh3866,144,084 - 6,320,662 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3766,144,317 - 6,320,895 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3666,089,310 - 6,265,923 (-)NCBINCBI36hg18NCBI36
Build 3466,089,316 - 6,265,901NCBI
Celera67,372,733 - 7,550,578 (-)NCBI
Cytogenetic Map6p25.1NCBI
HuRef66,020,217 - 6,197,010 (-)NCBIHuRef
CHM1_166,146,854 - 6,323,031 (-)NCBICHM1_1
F13a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391337,051,150 - 37,234,220 (-)NCBIGRCm39mm39
GRCm39 Ensembl1337,051,152 - 37,234,220 (-)Ensembl
GRCm381336,867,178 - 37,050,244 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1336,867,178 - 37,050,244 (-)EnsemblGRCm38mm10GRCm38
MGSCv371336,959,047 - 37,142,113 (-)NCBIGRCm37mm9NCBIm37
MGSCv361336,874,653 - 37,056,670 (-)NCBImm8
Celera1337,983,710 - 38,163,470 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
F13a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21727,815,723 - 27,992,494 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1727,815,702 - 27,992,700 (+)Ensembl
Rnor_6.01728,504,650 - 28,680,015 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1728,504,623 - 28,680,362 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01730,406,396 - 30,581,441 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41734,093,525 - 34,270,498 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11734,096,401 - 34,272,682 (+)NCBI
Celera1727,443,244 - 27,619,724 (+)NCBICelera
Cytogenetic Map17p12NCBI
F13a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554657,443,166 - 7,617,436 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554657,444,118 - 7,617,366 (+)NCBIChiLan1.0ChiLan1.0
F13A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.166,159,012 - 6,337,000 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl66,157,926 - 6,513,961 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v065,978,505 - 6,156,705 (-)NCBIMhudiblu_PPA_v0panPan3
F13A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1356,186,750 - 6,347,522 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl356,187,235 - 6,349,773 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha356,191,814 - 6,354,808 (-)NCBI
ROS_Cfam_1.0356,267,724 - 6,430,557 (-)NCBI
UMICH_Zoey_3.1356,122,455 - 6,285,137 (-)NCBI
UNSW_CanFamBas_1.0356,148,410 - 6,311,467 (-)NCBI
UU_Cfam_GSD_1.0357,481,872 - 7,644,350 (-)NCBI
F13a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494617,930,084 - 18,091,733 (+)NCBI
SpeTri2.0NW_0049365346,199,066 - 6,360,374 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F13A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl73,751,291 - 3,900,765 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.173,751,290 - 3,900,797 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.273,952,957 - 4,102,446 (-)NCBISscrofa10.2Sscrofa10.2susScr3
F13A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11765,885,498 - 66,040,026 (+)NCBI
ChlSab1.1 Ensembl1765,885,658 - 66,040,040 (+)Ensembl
Vero_WHO_p1.0NW_0236660446,090,570 - 6,385,150 (-)NCBI
F13a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475619,103,064 - 19,259,632 (+)NCBI

Position Markers
RH17664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,144,515 - 6,144,723UniSTSGRCh37
Build 3666,089,514 - 6,089,722RGDNCBI36
Celera67,372,937 - 7,373,145RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,020,421 - 6,020,629UniSTS
GeneMap99-GB4 RH Map627.78UniSTS
NCBI RH Map666.0UniSTS
GDB:180362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3866,321,266 - 6,321,452RGDGRCh38
GRCh3766,321,499 - 6,321,685UniSTSGRCh37
Build 3666,266,498 - 6,266,684RGDNCBI36
Celera67,551,153 - 7,551,347RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,197,367 - 6,197,561UniSTS
D6S1421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,144,802 - 6,145,128UniSTSGRCh37
Build 3666,089,801 - 6,090,127RGDNCBI36
Celera67,373,224 - 7,373,550RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,020,708 - 6,021,034UniSTS
GeneMap99-GB4 RH Map643.6UniSTS
GeneMap99-GB4 RH Map643.5UniSTS
Whitehead-RH Map653.4UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map6158.0UniSTS
SHGC-142412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,306,467 - 6,306,794UniSTSGRCh37
Build 3666,251,466 - 6,251,793RGDNCBI36
Celera67,536,133 - 7,536,460RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,182,572 - 6,182,899UniSTS
TNG Radiation Hybrid Map63392.0UniSTS
F13A1_447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,144,162 - 6,144,970UniSTSGRCh37
Build 3666,089,161 - 6,089,969RGDNCBI36
Celera67,372,584 - 7,373,392RGD
HuRef66,020,068 - 6,020,876UniSTS
D6S1320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,152,859 - 6,152,958UniSTSGRCh37
Build 3666,097,858 - 6,097,957RGDNCBI36
Celera67,381,281 - 7,381,380RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,028,769 - 6,028,868UniSTS
Whitehead-YAC Contig Map6 UniSTS
D6S2193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,191,645 - 6,191,785UniSTSGRCh37
Build 3666,136,644 - 6,136,784RGDNCBI36
Celera67,420,066 - 7,420,206RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,067,557 - 6,067,697UniSTS
GeneMap99-GB4 RH Map643.6UniSTS
WI-18963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,144,846 - 6,145,139UniSTSGRCh37
Build 3666,089,845 - 6,090,138RGDNCBI36
Celera67,373,268 - 7,373,561RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,020,752 - 6,021,045UniSTS
GeneMap99-GB4 RH Map643.6UniSTS
Whitehead-RH Map653.4UniSTS
RH36374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3766,145,734 - 6,145,839UniSTSGRCh37
Build 3666,090,733 - 6,090,838RGDNCBI36
Celera67,374,156 - 7,374,261RGD
Cytogenetic Map6p25.3-p24.3UniSTS
HuRef66,021,640 - 6,021,745UniSTS
GeneMap99-GB4 RH Map643.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1358
Count of miRNA genes:788
Interacting mature miRNAs:917
Transcripts:ENST00000264870, ENST00000414279, ENST00000431222, ENST00000445223, ENST00000451619, ENST00000479211
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 1 1 3 1
Medium 1876 2153 882 163 1284 51 3178 1148 826 205 625 1125 113 1182 1935 1
Low 443 803 675 305 510 255 1058 972 2498 163 709 284 49 19 844
Below cutoff 17 26 137 134 95 135 47 41 316 13 24 39 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A03736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB021744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF418272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP251770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ995293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF012158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF012159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264870   ⟹   ENSP00000264870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,144,084 - 6,320,662 (-)Ensembl
RefSeq Acc Id: ENST00000414279   ⟹   ENSP00000413334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,266,713 - 6,321,013 (-)Ensembl
RefSeq Acc Id: ENST00000431222   ⟹   ENSP00000416295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,266,734 - 6,320,905 (-)Ensembl
RefSeq Acc Id: ENST00000445223   ⟹   ENSP00000394693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,206,411 - 6,224,808 (-)Ensembl
RefSeq Acc Id: ENST00000451619   ⟹   ENSP00000411114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,305,113 - 6,320,642 (-)Ensembl
RefSeq Acc Id: ENST00000479211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl66,250,907 - 6,305,654 (-)Ensembl
RefSeq Acc Id: NM_000129   ⟹   NP_000120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3866,144,084 - 6,320,662 (-)NCBI
GRCh3766,144,311 - 6,320,924 (-)ENTREZGENE
Build 3666,089,310 - 6,265,923 (-)NCBI Archive
HuRef66,020,217 - 6,197,010 (-)ENTREZGENE
CHM1_166,146,854 - 6,323,031 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000120   ⟸   NM_000129
- UniProtKB: P00488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000411114   ⟸   ENST00000451619
RefSeq Acc Id: ENSP00000413334   ⟸   ENST00000414279
RefSeq Acc Id: ENSP00000394693   ⟸   ENST00000445223
RefSeq Acc Id: ENSP00000416295   ⟸   ENST00000431222
RefSeq Acc Id: ENSP00000264870   ⟸   ENST00000264870
Protein Domains
TGc   Transglut_N

Promoters
RGD ID:6804216
Promoter ID:HG_KWN:52224
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000039756,   OTTHUMT00000317456,   OTTHUMT00000317457,   OTTHUMT00000317459
Position:
Human AssemblyChrPosition (strand)Source
Build 3666,265,526 - 6,266,026 (-)MPROMDB
RGD ID:6871954
Promoter ID:EPDNEW_H9141
Type:initiation region
Name:F13A1_1
Description:coagulation factor XIII A chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3866,320,662 - 6,320,722EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000129.4(F13A1):c.603_606del (p.Arg202fs) microsatellite Factor XIII, A subunit, deficiency of [RCV000022541] Chr6:6250895..6250898 [GRCh38]
Chr6:6251128..6251131 [GRCh37]
Chr6:6p25.1
pathogenic
F13A1, 2-BP DEL, 210AG deletion Factor XIII, A subunit, deficiency of [RCV000017987] Chr6:6p25-p24 pathogenic
F13A1, 1-BP INS, 1286C insertion Factor XIII, A subunit, deficiency of [RCV000018001] Chr6:6p25-p24 pathogenic
NM_000129.4(F13A1):c.691-1G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000018002] Chr6:6248420 [GRCh38]
Chr6:6248653 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.-19+12= single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000022542] Chr6:6320575 [GRCh38]
Chr6:6320808 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.2045G>A (p.Arg682His) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017988] Chr6:6151813 [GRCh38]
Chr6:6152046 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.514C>T (p.Arg172Ter) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017989] Chr6:6266615 [GRCh38]
Chr6:6266848 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.1326C>A (p.Tyr442Ter) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017990] Chr6:6182121 [GRCh38]
Chr6:6182354 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.183C>A (p.Asn61Lys) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017991] Chr6:6305487 [GRCh38]
Chr6:6305720 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.1504G>A (p.Gly502Arg) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017992] Chr6:6174823 [GRCh38]
Chr6:6175056 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.1687G>A (p.Gly563Arg) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017993] Chr6:6174640 [GRCh38]
Chr6:6174873 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.1243G>T (p.Val415Phe) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017994] Chr6:6195859 [GRCh38]
Chr6:6196092 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.782G>A (p.Arg261His) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017995] Chr6:6248328 [GRCh38]
Chr6:6248561 [GRCh37]
Chr6:6p25.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000374698]|Myocardial infarction, protection against [RCV000017996]|Venous thrombosis, protection against [RCV000017997]|not provided [RCV000998517]|not specified [RCV000248039] Chr6:6318562 [GRCh38]
Chr6:6318795 [GRCh37]
Chr6:6p25.1
benign|likely benign|protective|uncertain significance
NM_000129.3(F13A1):c.980G>A (p.Arg327Gln) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017998] Chr6:6222165 [GRCh38]
Chr6:6222398 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.949G>T (p.Val317Phe) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000017999] Chr6:6224710 [GRCh38]
Chr6:6224943 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.851A>G (p.Tyr284Cys) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000018000] Chr6:6224808 [GRCh38]
Chr6:6225041 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.2110C>T (p.Arg704Trp) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000018003] Chr6:6145708 [GRCh38]
Chr6:6145941 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000018004] Chr6:6151874 [GRCh38]
Chr6:6152107 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.728T>C (p.Met243Thr) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000018005] Chr6:6248382 [GRCh38]
Chr6:6248615 [GRCh37]
Chr6:6p25.1
pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 copy number loss See cases [RCV000052163] Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3
pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3
pathogenic
NM_000129.3(F13A1):c.595G>A (p.Glu199Lys) single nucleotide variant Malignant melanoma [RCV000067431] Chr6:6250906 [GRCh38]
Chr6:6251139 [GRCh37]
Chr6:6196138 [NCBI36]
Chr6:6p25.1
not provided
NM_000129.3(F13A1):c.236G>A (p.Arg79Lys) single nucleotide variant Malignant melanoma [RCV000067432] Chr6:6305434 [GRCh38]
Chr6:6305667 [GRCh37]
Chr6:6250666 [NCBI36]
Chr6:6p25.1
not provided
NM_000129.3(F13A1):c.211G>A (p.Glu71Lys) single nucleotide variant Malignant melanoma [RCV000067433] Chr6:6305459 [GRCh38]
Chr6:6305692 [GRCh37]
Chr6:6250691 [NCBI36]
Chr6:6p25.1
not provided
NM_000129.3(F13A1):c.1576G>A (p.Glu526Lys) single nucleotide variant Malignant melanoma [RCV000061465] Chr6:6174751 [GRCh38]
Chr6:6174984 [GRCh37]
Chr6:6119983 [NCBI36]
Chr6:6p25.1
not provided
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1
pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3
likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33
pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3
pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2
likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 copy number loss See cases [RCV000142299] Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3
pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3
pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 copy number loss See cases [RCV000142916] Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1
pathogenic
GRCh38/hg38 6p25.1(chr6:6163258-6766313)x3 copy number gain See cases [RCV000143100] Chr6:6163258..6766313 [GRCh38]
Chr6:6163491..6766546 [GRCh37]
Chr6:6108490..6711545 [NCBI36]
Chr6:6p25.1
uncertain significance
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1
likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23
pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_000129.3(F13A1):c.1817del (p.His606fs) deletion Factor XIII, A subunit, deficiency of [RCV000754780] Chr6:6167549 [GRCh38]
Chr6:6167782 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.3(F13A1):c.*619C>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000268274] Chr6:6145000 [GRCh38]
Chr6:6145233 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.996A>C (p.Pro332=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000326873]|not specified [RCV000249062] Chr6:6222149 [GRCh38]
Chr6:6222382 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.1954G>C (p.Glu652Gln) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000390947]|not specified [RCV000244287] Chr6:6151904 [GRCh38]
Chr6:6152137 [GRCh37]
Chr6:6p25.1
benign|likely benign
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1
pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 copy number loss See cases [RCV000240475] Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1
pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3
pathogenic
NM_000129.3(F13A1):c.1951G>A (p.Val651Ile) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000297230]|not specified [RCV000252406] Chr6:6151907 [GRCh38]
Chr6:6152140 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.1704A>G (p.Glu568=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000302214]|not specified [RCV000247654] Chr6:6174623 [GRCh38]
Chr6:6174856 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000366204]|not provided [RCV000998515]|not specified [RCV000242868] Chr6:6174633 [GRCh38]
Chr6:6174866 [GRCh37]
Chr6:6p25.1
benign|likely benign|uncertain significance
NM_000129.3(F13A1):c.1112+17A>G single nucleotide variant not specified [RCV000252783] Chr6:6222016 [GRCh38]
Chr6:6222249 [GRCh37]
Chr6:6p25.1
benign
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_000129.3(F13A1):c.799-13C>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000332743] Chr6:6224873 [GRCh38]
Chr6:6225106 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*126T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000343622] Chr6:6145493 [GRCh38]
Chr6:6145726 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.*587G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000322930] Chr6:6145032 [GRCh38]
Chr6:6145265 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.2067C>T (p.Thr689=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000300905] Chr6:6145751 [GRCh38]
Chr6:6145984 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.-19+12A>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000400235]|not specified [RCV001530029] Chr6:6320575 [GRCh38]
Chr6:6320808 [GRCh37]
Chr6:6p25.1
benign
NM_000129.3(F13A1):c.2029A>G (p.Met677Val) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000336928] Chr6:6151829 [GRCh38]
Chr6:6152062 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.1112+11T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000271627] Chr6:6222022 [GRCh38]
Chr6:6222255 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*160G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000288686] Chr6:6145459 [GRCh38]
Chr6:6145692 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.*67C>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000349956] Chr6:6145552 [GRCh38]
Chr6:6145785 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*270C>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000328812] Chr6:6145349 [GRCh38]
Chr6:6145582 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*443G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000377527] Chr6:6145176 [GRCh38]
Chr6:6145409 [GRCh37]
Chr6:6p25.1
likely benign|uncertain significance
NM_000129.3(F13A1):c.*112G>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000400707] Chr6:6145507 [GRCh38]
Chr6:6145740 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.3(F13A1):c.*995G>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000408380] Chr6:6144624 [GRCh38]
Chr6:6144857 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.*927G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000356958] Chr6:6144692 [GRCh38]
Chr6:6144925 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*221G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000383445] Chr6:6145398 [GRCh38]
Chr6:6145631 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.889G>A (p.Val297Ile) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000277737] Chr6:6224770 [GRCh38]
Chr6:6225003 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*89A>G single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000295018] Chr6:6145530 [GRCh38]
Chr6:6145763 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.*743G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000262390] Chr6:6144876 [GRCh38]
Chr6:6145109 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.3(F13A1):c.102C>T (p.Gly34=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000279340] Chr6:6318563 [GRCh38]
Chr6:6318796 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.1860G>C (p.Leu620=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000361339] Chr6:6167506 [GRCh38]
Chr6:6167739 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.160T>A (p.Phe54Ile) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000338721]|not provided [RCV000957863] Chr6:6305510 [GRCh38]
Chr6:6305743 [GRCh37]
Chr6:6p25.1
benign|uncertain significance
NM_000129.3(F13A1):c.*945T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000311525] Chr6:6144674 [GRCh38]
Chr6:6144907 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*1030G>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000369851] Chr6:6144589 [GRCh38]
Chr6:6144822 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.1731G>C (p.Thr577=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000265829] Chr6:6174596 [GRCh38]
Chr6:6174829 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*417G>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000283114] Chr6:6145202 [GRCh38]
Chr6:6145435 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.-18-5dup duplication Factor XIII, A subunit, deficiency of [RCV000334357] Chr6:6318686..6318687 [GRCh38]
Chr6:6318919..6318920 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.3(F13A1):c.*1167T>G single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000315402] Chr6:6144452 [GRCh38]
Chr6:6144685 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.990A>T (p.Gly330=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000381535] Chr6:6222155 [GRCh38]
Chr6:6222388 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.327C>T (p.Tyr109=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000293083] Chr6:6266802 [GRCh38]
Chr6:6267035 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.-28G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000303944] Chr6:6320596 [GRCh38]
Chr6:6320829 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*628G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000317610] Chr6:6144991 [GRCh38]
Chr6:6145224 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*627G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000353620] Chr6:6144992 [GRCh38]
Chr6:6145225 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.*42G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000390945] Chr6:6145577 [GRCh38]
Chr6:6145810 [GRCh37]
Chr6:6p25.1
uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 copy number loss See cases [RCV000511093] Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1
pathogenic
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3
likely pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3
pathogenic
NM_000129.3(F13A1):c.1352_1353del (p.His451fs) deletion Factor XIII, A subunit, deficiency of [RCV000714480] Chr6:6182094..6182095 [GRCh38]
Chr6:6182327..6182328 [GRCh37]
Chr6:6p25.1
likely pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000851722]|not provided [RCV000998514] Chr6:6167589 [GRCh38]
Chr6:6167822 [GRCh37]
Chr6:6p25.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000129.3(F13A1):c.888C>G (p.Ser296Arg) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000851910] Chr6:6224771 [GRCh38]
Chr6:6225004 [GRCh37]
Chr6:6p25.1
likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164367] Chr6:6197255 [GRCh38]
Chr6:6197488 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.*428C>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164254] Chr6:6145191 [GRCh38]
Chr6:6145424 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1689G>A (p.Gly563=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164365]|not provided [RCV000883198] Chr6:6174638 [GRCh38]
Chr6:6174871 [GRCh37]
Chr6:6p25.1
benign|likely benign
NM_000129.4(F13A1):c.1766T>A (p.Leu589Gln) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162333]|not provided [RCV000968459] Chr6:6167600 [GRCh38]
Chr6:6167833 [GRCh37]
Chr6:6p25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000129.4(F13A1):c.1652C>T (p.Thr551Ile) single nucleotide variant not provided [RCV000899313] Chr6:6174675 [GRCh38]
Chr6:6174908 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1152T>C (p.Pro384=) single nucleotide variant not provided [RCV000943755] Chr6:6197287 [GRCh38]
Chr6:6197520 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1731G>A (p.Thr577=) single nucleotide variant not provided [RCV000976768] Chr6:6174596 [GRCh38]
Chr6:6174829 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.691-6A>G single nucleotide variant not provided [RCV000898157] Chr6:6248425 [GRCh38]
Chr6:6248658 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1620C>T (p.Phe540=) single nucleotide variant not provided [RCV000888701] Chr6:6174707 [GRCh38]
Chr6:6174940 [GRCh37]
Chr6:6p25.1
benign
NM_000129.4(F13A1):c.1032T>C (p.Asp344=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164368]|not provided [RCV000886575] Chr6:6222113 [GRCh38]
Chr6:6222346 [GRCh37]
Chr6:6p25.1
benign|uncertain significance
NM_000129.4(F13A1):c.741A>G (p.Gln247=) single nucleotide variant not provided [RCV000943073] Chr6:6248369 [GRCh38]
Chr6:6248602 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.3(F13A1):c.572-5T>C single nucleotide variant not provided [RCV000797931] Chr6:6250934 [GRCh38]
Chr6:6251167 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.563G>T (p.Trp188Leu) single nucleotide variant Hereditary factor XIII deficiency disease [RCV000785755] Chr6:6266566 [GRCh38]
Chr6:6266799 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.4(F13A1):c.*606T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164253] Chr6:6145013 [GRCh38]
Chr6:6145246 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001164366] Chr6:6174835 [GRCh38]
Chr6:6175068 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.88G>A (p.Val30Met) single nucleotide variant not provided [RCV000816897] Chr6:6318577 [GRCh38]
Chr6:6318810 [GRCh37]
Chr6:6p25.1
uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3
pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3
pathogenic
NM_000129.4(F13A1):c.*934G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162235] Chr6:6144685 [GRCh38]
Chr6:6144918 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1748-7C>G single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162335] Chr6:6167625 [GRCh38]
Chr6:6167858 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1107A>G (p.Ser369=) single nucleotide variant not provided [RCV000998516] Chr6:6222038 [GRCh38]
Chr6:6222271 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.3(F13A1):c.233G>T (p.Arg78Leu) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000851743] Chr6:6305437 [GRCh38]
Chr6:6305670 [GRCh37]
Chr6:6p25.1
likely pathogenic
NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV000852055] Chr6:6167562 [GRCh38]
Chr6:6167795 [GRCh37]
Chr6:6p25.1
likely pathogenic
NM_000129.4(F13A1):c.*1253T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160610] Chr6:6144366 [GRCh38]
Chr6:6144599 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1080C>T (p.Asn360=) single nucleotide variant not provided [RCV001092973] Chr6:6222065 [GRCh38]
Chr6:6222298 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.2169C>T (p.Asp723=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160710]|not provided [RCV000963445] Chr6:6145649 [GRCh38]
Chr6:6145882 [GRCh37]
Chr6:6p25.1
benign|likely benign|uncertain significance
NM_000129.4(F13A1):c.542C>T (p.Thr181Met) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159439] Chr6:6266587 [GRCh38]
Chr6:6266820 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.476G>A (p.Arg159His) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159440] Chr6:6266653 [GRCh38]
Chr6:6266886 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1260C>T (p.His420=) single nucleotide variant not provided [RCV001092972] Chr6:6195842 [GRCh38]
Chr6:6196075 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.291G>A (p.Arg97=) single nucleotide variant not provided [RCV000913325] Chr6:6305379 [GRCh38]
Chr6:6305612 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1832C>G (p.Ala611Gly) single nucleotide variant not provided [RCV001092971] Chr6:6167534 [GRCh38]
Chr6:6167767 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.118G>A (p.Val40Ile) single nucleotide variant not provided [RCV001092975] Chr6:6318547 [GRCh38]
Chr6:6318780 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*1045C>G single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160612] Chr6:6144574 [GRCh38]
Chr6:6144807 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.2036A>T (p.Lys679Met) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160711] Chr6:6151822 [GRCh38]
Chr6:6152055 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*796G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162236] Chr6:6144823 [GRCh38]
Chr6:6145056 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1861G>T (p.Ala621Ser) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162332] Chr6:6167505 [GRCh38]
Chr6:6167738 [GRCh37]
Chr6:6p25.1
uncertain significance
NC_000006.12:g.6320663G>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160813] Chr6:6320663 [GRCh38]
Chr6:6320896 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*102G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159347] Chr6:6145517 [GRCh38]
Chr6:6145750 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.911G>A (p.Arg304Gln) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159436] Chr6:6224748 [GRCh38]
Chr6:6224981 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.614A>T (p.Tyr205Phe) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159438] Chr6:6250887 [GRCh38]
Chr6:6251120 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.27del (p.Phe9fs) deletion not provided [RCV001092976] Chr6:6318638 [GRCh38]
Chr6:6318871 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.4(F13A1):c.*1135G>A single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160611] Chr6:6144484 [GRCh38]
Chr6:6144717 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.798+2T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420448]|not provided [RCV001092974] Chr6:6248310 [GRCh38]
Chr6:6248543 [GRCh37]
Chr6:6p25.1
pathogenic
NM_000129.4(F13A1):c.1761G>A (p.Ala587=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162334] Chr6:6167605 [GRCh38]
Chr6:6167838 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162336] Chr6:6174597 [GRCh38]
Chr6:6174830 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*208T>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159346] Chr6:6145411 [GRCh38]
Chr6:6145644 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.680G>A (p.Ser227Asn) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001159437] Chr6:6250821 [GRCh38]
Chr6:6251054 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*1455G>C single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160609] Chr6:6144164 [GRCh38]
Chr6:6144397 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1998A>G (p.Val666=) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160712] Chr6:6151860 [GRCh38]
Chr6:6152093 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.130+15C>G single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001160812] Chr6:6318520 [GRCh38]
Chr6:6318753 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.*966G>T single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001162234] Chr6:6144653 [GRCh38]
Chr6:6144886 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.117C>A (p.Gly39=) single nucleotide variant not provided [RCV001311700] Chr6:6318548 [GRCh38]
Chr6:6318781 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.503A>G (p.Tyr168Cys) single nucleotide variant not provided [RCV001311699] Chr6:6266626 [GRCh38]
Chr6:6266859 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1878C>T (p.Thr626=) single nucleotide variant not provided [RCV001311697] Chr6:6167488 [GRCh38]
Chr6:6167721 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.543G>A (p.Thr181=) single nucleotide variant not provided [RCV001311698] Chr6:6266586 [GRCh38]
Chr6:6266819 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1149G>T (p.Arg383Ser) single nucleotide variant Abnormal bleeding [RCV001270561] Chr6:6197290 [GRCh38]
Chr6:6197523 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.22G>A (p.Ala8Thr) single nucleotide variant not provided [RCV001413147] Chr6:6318643 [GRCh38]
Chr6:6318876 [GRCh37]
Chr6:6p25.1
likely benign|conflicting interpretations of pathogenicity
NM_000129.4(F13A1):c.1718C>T (p.Thr573Met) single nucleotide variant not provided [RCV001498031] Chr6:6174609 [GRCh38]
Chr6:6174842 [GRCh37]
Chr6:6p25.1
likely benign
NM_000129.4(F13A1):c.1909G>A (p.Val637Ile) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420444] Chr6:6151949 [GRCh38]
Chr6:6152182 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1531G>A (p.Gly511Ser) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420445] Chr6:6174796 [GRCh38]
Chr6:6175029 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420446] Chr6:6182101 [GRCh38]
Chr6:6182334 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.1297T>G (p.Phe433Val) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420447] Chr6:6195805 [GRCh38]
Chr6:6196038 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.787G>A (p.Gly263Arg) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420449] Chr6:6248323 [GRCh38]
Chr6:6248556 [GRCh37]
Chr6:6p25.1
uncertain significance
NM_000129.4(F13A1):c.186G>C (p.Lys62Asn) single nucleotide variant Factor XIII, A subunit, deficiency of [RCV001420450] Chr6:6305484 [GRCh38]
Chr6:6305717 [GRCh37]
Chr6:6p25.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3531 AgrOrtholog
COSMIC F13A1 COSMIC
Ensembl Genes ENSG00000124491 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264870 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394693 UniProtKB/TrEMBL
  ENSP00000411114 UniProtKB/TrEMBL
  ENSP00000413334 UniProtKB/TrEMBL
  ENSP00000416295 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264870 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414279 UniProtKB/TrEMBL
  ENST00000431222 UniProtKB/TrEMBL
  ENST00000445223 UniProtKB/TrEMBL
  ENST00000451619 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124491 GTEx
HGNC ID HGNC:3531 ENTREZGENE
Human Proteome Map F13A1 Human Proteome Map
InterPro Factor_XIII_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_animal UniProtKB/Swiss-Prot
  Transglutaminase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglutaminase_C UniProtKB/Swiss-Prot
  Transglutaminase_C_sf UniProtKB/Swiss-Prot
  Transglutaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2162 UniProtKB/Swiss-Prot
NCBI Gene 2162 ENTREZGENE
OMIM 134570 OMIM
  188050 OMIM
  608446 OMIM
  613225 OMIM
PANTHER PTHR11590:SF42 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Transglut_C UniProtKB/Swiss-Prot
  Transglut_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transglut_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162 PharmGKB
PIRSF TGM_EBP42 UniProtKB/Swiss-Prot
PROSITE TRANSGLUTAMINASES UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49309 UniProtKB/Swiss-Prot
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2H0_HUMAN UniProtKB/TrEMBL
  A6PVK5_HUMAN UniProtKB/TrEMBL
  F13A_HUMAN UniProtKB/Swiss-Prot
  H0Y4W5_HUMAN UniProtKB/TrEMBL
  H0Y796_HUMAN UniProtKB/TrEMBL
  P00488 ENTREZGENE
  Q9NQP5_HUMAN UniProtKB/TrEMBL
  Q9NZ69_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q59HA7 UniProtKB/Swiss-Prot
  Q8N6X2 UniProtKB/Swiss-Prot
  Q96P24 UniProtKB/Swiss-Prot
  Q9BX29 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 F13A1  coagulation factor XIII A chain  F13A1  coagulation factor XIII, A1 polypeptide  Symbol and/or name change 5135510 APPROVED