F9 (coagulation factor IX) - Rat Genome Database

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Gene: F9 (coagulation factor IX) Homo sapiens
Analyze
Symbol: F9
Name: coagulation factor IX
RGD ID: 735620
HGNC Page HGNC
Description: Exhibits calcium ion binding activity and endopeptidase activity. Involved in blood coagulation and zymogen activation. Localizes to extracellular space. Implicated in X-linked thrombophilia due to factor IX defect; X-linked warfarin sensitivity; and hemophilia B. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Christmas factor; coagulation factor 9; coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B); F9 p22; factor 9; factor IX F9; FIX; FIX F9; HEMB; MGC129641; MGC129642; P19; plasma thromboplastic component; plasma thromboplastin component; PTC; serine protease; THPH8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX139,530,758 - 139,563,458 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX139,530,739 - 139,563,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38X139,530,720 - 139,563,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,612,898 - 138,645,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,440,561 - 138,473,283 (+)NCBINCBI36hg18NCBI36
Build 34X138,338,414 - 138,371,137NCBI
CeleraX138,980,334 - 139,013,056 (+)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX127,880,671 - 127,913,025 (+)NCBIHuRef
CHM1_1X138,523,783 - 138,556,510 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. Attree O, etal., Genomics. 1989 Apr;4(3):266-72.
2. Driscoll MC, etal., Blood. 1989 Aug 1;74(2):737-42.
3. Giannelli F, etal., Nucleic Acids Res. 1991 Apr 25;19 Suppl:2193-219.
4. GOA_HUMAN data from the GO Consortium
5. Golino P Thromb Res. 2002 May 1;106(3):V257-65.
6. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
7. Laudes IJ, etal., Am J Pathol. 2002 May;160(5):1867-75.
8. Lin HF, etal., Blood. 1997 Nov 15;90(10):3962-6.
9. Nobukata H, etal., Toxicol Lett. 1999 Jan 11;104(1-2):93-101.
10. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
11. OMIM Disease Annotation Pipeline
12. Pipeline to import KEGG annotations from KEGG into RGD
13. Pipeline to import SMPDB annotations from SMPDB into RGD
14. Reijnen MJ, etal., Proc Natl Acad Sci U S A 1992 Jul 15;89(14):6300-3.
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Smith SA, etal., Crit Rev Biochem Mol Biol. 2015;50(4):326-36. doi: 10.3109/10409238.2015.1050550. Epub 2015 May 28.
19. Verma D, etal., Proc Natl Acad Sci U S A. 2010 Apr 13;107(15):7101-6. doi: 10.1073/pnas.0912181107. Epub 2010 Mar 29.
20. Wang L, etal., Proc Natl Acad Sci U S A 1997 Oct 14;94(21):11563-6.
21. Zhang L, etal., Zhonghua Xue Ye Xue Za Zhi. 2010 May;31(5):294-299.
Additional References at PubMed
PMID:237463   PMID:659613   PMID:922557   PMID:1304885   PMID:1346975   PMID:1517205   PMID:1615485   PMID:1634040   PMID:1854745   PMID:1902289   PMID:1958666   PMID:2040636  
PMID:2110473   PMID:2129367   PMID:2162822   PMID:2248955   PMID:2339358   PMID:2352926   PMID:2372509   PMID:2472424   PMID:2511201   PMID:2592373   PMID:2713493   PMID:2738071  
PMID:2743975   PMID:2753873   PMID:2773937   PMID:2775660   PMID:2875754   PMID:2994716   PMID:3009023   PMID:3243764   PMID:3340835   PMID:3401602   PMID:3416069   PMID:3790720  
PMID:3857619   PMID:6089357   PMID:6287289   PMID:6320191   PMID:6329734   PMID:6425296   PMID:6603618   PMID:6687940   PMID:6688526   PMID:6959130   PMID:7547952   PMID:7598447  
PMID:7606779   PMID:7713897   PMID:7981722   PMID:7987222   PMID:8076946   PMID:8172892   PMID:8199596   PMID:8236150   PMID:8257988   PMID:8295821   PMID:8392713   PMID:8626656  
PMID:8632006   PMID:8663165   PMID:8680410   PMID:8833911   PMID:8855310   PMID:9047312   PMID:9169594   PMID:9222764   PMID:9590153   PMID:9600455   PMID:9655178   PMID:9834200  
PMID:10094553   PMID:10391209   PMID:10467148   PMID:10698280   PMID:11122099   PMID:11122405   PMID:11133752   PMID:11278963   PMID:11396323   PMID:11583320   PMID:11736930   PMID:11754103  
PMID:11754413   PMID:11830468   PMID:11891231   PMID:11925427   PMID:12036878   PMID:12070021   PMID:12105230   PMID:12152682   PMID:12167623   PMID:12192300   PMID:12477932   PMID:12496253  
PMID:12513796   PMID:12522143   PMID:12522212   PMID:12570162   PMID:12588353   PMID:12604421   PMID:12768436   PMID:12824704   PMID:12871416   PMID:12871503   PMID:14521595   PMID:14532267  
PMID:14567539   PMID:14629468   PMID:14660587   PMID:14718574   PMID:14722079   PMID:14963035   PMID:15009460   PMID:15039440   PMID:15183040   PMID:15219198   PMID:15326167   PMID:15328360  
PMID:15383460   PMID:15456490   PMID:15489334   PMID:15581349   PMID:15590401   PMID:15634274   PMID:15643612   PMID:15772651   PMID:15829482   PMID:15842381   PMID:15866866   PMID:15913649  
PMID:15921378   PMID:16102111   PMID:16322469   PMID:16517611   PMID:16766524   PMID:16839351   PMID:16939230   PMID:17014892   PMID:17048007   PMID:17230038   PMID:17308903   PMID:17397055  
PMID:17414217   PMID:17563121   PMID:17882724   PMID:17985356   PMID:18029348   PMID:18179572   PMID:18192270   PMID:18293119   PMID:18393396   PMID:18434706   PMID:18449417   PMID:18459950  
PMID:18600094   PMID:18624698   PMID:18647957   PMID:19047063   PMID:19158249   PMID:19262239   PMID:19286883   PMID:19357501   PMID:19404534   PMID:19416882   PMID:19617576   PMID:19656280  
PMID:19699296   PMID:19817987   PMID:19913121   PMID:19930472   PMID:20004170   PMID:20121197   PMID:20128871   PMID:20301668   PMID:20346360   PMID:20539913   PMID:20628058   PMID:20628086  
PMID:20695909   PMID:20885981   PMID:21305775   PMID:21873635   PMID:21976659   PMID:22057218   PMID:22207756   PMID:22212890   PMID:22281721   PMID:22471307   PMID:22544209   PMID:22618954  
PMID:22639855   PMID:22870602   PMID:22961984   PMID:23014580   PMID:23054460   PMID:23093250   PMID:23410583   PMID:23446552   PMID:23472758   PMID:23530052   PMID:23533145   PMID:23580639  
PMID:23585459   PMID:23617568   PMID:23617593   PMID:23884417   PMID:24030831   PMID:24068708   PMID:24124147   PMID:24136406   PMID:24261420   PMID:24375831   PMID:24498168   PMID:24564349  
PMID:24656159   PMID:24679056   PMID:24759143   PMID:24816826   PMID:25037231   PMID:25157807   PMID:25163770   PMID:25224783   PMID:25402191   PMID:25470321   PMID:25582609   PMID:25851619  
PMID:26023895   PMID:26157780   PMID:26414444   PMID:26612714   PMID:26686734   PMID:26802680   PMID:26928674   PMID:27129300   PMID:27133073   PMID:27227676   PMID:27229773   PMID:27292088  
PMID:27356208   PMID:27529981   PMID:27734074   PMID:27824213   PMID:27865967   PMID:28007939   PMID:28196793   PMID:28393470   PMID:28514442   PMID:28834196   PMID:29032977   PMID:29296726  
PMID:29388273   PMID:29419409   PMID:29450643   PMID:29656491   PMID:29724133   PMID:29923114   PMID:30725510   PMID:30817849   PMID:30866119   PMID:31180618   PMID:31257730   PMID:31446339  
PMID:31594977   PMID:31815744   PMID:32155688   PMID:32346856  


Genomics

Comparative Map Data
F9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX139,530,758 - 139,563,458 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX139,530,739 - 139,563,459 (+)EnsemblGRCh38hg38GRCh38
GRCh38X139,530,720 - 139,563,459 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X138,612,898 - 138,645,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X138,440,561 - 138,473,283 (+)NCBINCBI36hg18NCBI36
Build 34X138,338,414 - 138,371,137NCBI
CeleraX138,980,334 - 139,013,056 (+)NCBI
Cytogenetic MapXq27.1NCBI
HuRefX127,880,671 - 127,913,025 (+)NCBIHuRef
CHM1_1X138,523,783 - 138,556,510 (+)NCBICHM1_1
F9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X59,044,675 - 59,076,120 (+)NCBIGRCm39mm39
GRCm39 EnsemblX59,044,824 - 59,076,119 (+)Ensembl
GRCm38X59,999,329 - 60,030,760 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX59,999,464 - 60,030,759 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X57,252,641 - 57,283,935 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X56,346,248 - 56,377,542 (+)NCBImm8
CeleraX46,438,864 - 46,469,954 (+)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX33.5NCBI
F9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X138,352,334 - 138,396,835 (+)NCBI
Rnor_6.0 EnsemblX143,097,525 - 143,141,794 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X143,097,507 - 143,141,791 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X143,127,239 - 143,171,465 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X145,527,978 - 145,575,966 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X145,647,657 - 145,648,632 (+)NCBI
CeleraX134,429,774 - 134,473,582 (+)NCBICelera
Cytogenetic MapXq36NCBI
F9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554895,749,187 - 5,780,866 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554895,747,718 - 5,780,899 (-)NCBIChiLan1.0ChiLan1.0
F9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X138,934,144 - 138,967,180 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX138,934,167 - 138,967,087 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X128,684,709 - 128,719,020 (+)NCBIMhudiblu_PPA_v0panPan3
F9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X109,501,341 - 109,533,798 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX109,501,341 - 109,533,798 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX95,328,677 - 95,361,130 (+)NCBI
ROS_Cfam_1.0X111,487,863 - 111,520,319 (+)NCBI
UMICH_Zoey_3.1X108,621,887 - 108,654,350 (+)NCBI
UNSW_CanFamBas_1.0X110,806,410 - 110,838,864 (+)NCBI
UU_Cfam_GSD_1.0X110,485,875 - 110,518,335 (+)NCBI
F9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X107,524,352 - 107,562,278 (+)NCBI
SpeTri2.0NW_0049365138,052,998 - 8,090,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
F9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX114,218,707 - 114,250,436 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X114,218,704 - 114,250,436 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X130,417,620 - 130,448,319 (+)NCBISscrofa10.2Sscrofa10.2susScr3
F9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X114,618,397 - 114,650,827 (+)NCBI
ChlSab1.1 EnsemblX114,618,639 - 114,651,365 (+)Ensembl
F9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248087,137,482 - 7,175,255 (-)NCBI

Position Markers
GDB:192503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,643,949 - 138,644,169UniSTSGRCh37
Build 36X138,471,615 - 138,471,835RGDNCBI36
CeleraX139,011,388 - 139,011,608RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,911,381 - 127,911,601UniSTS
GDB:177588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,612,194 - 138,612,549UniSTSGRCh37
Build 36X138,439,860 - 138,440,215RGDNCBI36
CeleraX138,979,633 - 138,979,988RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,879,257 - 127,880,325UniSTS
GDB:177796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,618,227 - 138,618,556UniSTSGRCh37
Build 36X138,445,893 - 138,446,222RGDNCBI36
CeleraX138,985,666 - 138,985,995RGD
Cytogenetic MapXq27.1-q27.2UniSTS
GDB:177926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,633,217 - 138,633,466UniSTSGRCh37
Build 36X138,460,883 - 138,461,132RGDNCBI36
CeleraX139,000,656 - 139,000,905RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,900,649 - 127,900,898UniSTS
GDB:178640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,618,203 - 138,618,500UniSTSGRCh37
Build 36X138,445,869 - 138,446,166RGDNCBI36
CeleraX138,985,642 - 138,985,939RGD
Cytogenetic MapXq27.1-q27.2UniSTS
GDB:181635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,643,142 - 138,643,622UniSTSGRCh37
Build 36X138,470,808 - 138,471,288RGDNCBI36
CeleraX139,010,581 - 139,011,061RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,910,574 - 127,911,054UniSTS
GDB:181846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,618,204 - 138,618,566UniSTSGRCh37
Build 36X138,445,870 - 138,446,232RGDNCBI36
CeleraX138,985,643 - 138,986,005RGD
Cytogenetic MapXq27.1-q27.2UniSTS
GDB:182120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,612,187 - 138,612,711UniSTSGRCh37
Build 36X138,439,853 - 138,440,377RGDNCBI36
CeleraX138,979,626 - 138,980,150RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,879,250 - 127,880,487UniSTS
GDB:182121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,619,857 - 138,620,077UniSTSGRCh37
Build 36X138,447,523 - 138,447,743RGDNCBI36
CeleraX138,987,296 - 138,987,516RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,887,554 - 127,887,774UniSTS
GDB:182122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,623,859 - 138,624,157UniSTSGRCh37
Build 36X138,451,525 - 138,451,823RGDNCBI36
CeleraX138,991,298 - 138,991,596RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,891,556 - 127,891,854UniSTS
GDB:197038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,612,094 - 138,612,319UniSTSGRCh37
Build 36X138,439,760 - 138,439,985RGDNCBI36
CeleraX138,979,533 - 138,979,758RGD
Cytogenetic MapXq27.1-q27.2UniSTS
GDB:197039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,612,850 - 138,613,275UniSTSGRCh37
Build 36X138,440,516 - 138,440,941RGDNCBI36
CeleraX138,980,289 - 138,980,714RGD
Cytogenetic MapXq27.1-q27.2UniSTS
GDB:303850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,643,631 - 138,644,297UniSTSGRCh37
Build 36X138,471,297 - 138,471,963RGDNCBI36
CeleraX139,011,070 - 139,011,736RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,911,063 - 127,911,729UniSTS
G66627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,619,644 - 138,620,619UniSTSGRCh37
Build 36X138,447,310 - 138,448,285RGDNCBI36
CeleraX138,987,083 - 138,988,058RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,887,341 - 127,888,316UniSTS
G66628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,620,945 - 138,621,904UniSTSGRCh37
Build 36X138,448,611 - 138,449,570RGDNCBI36
CeleraX138,988,384 - 138,989,343RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,888,642 - 127,889,601UniSTS
G66629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,622,277 - 138,623,205UniSTSGRCh37
Build 36X138,449,943 - 138,450,871RGDNCBI36
CeleraX138,989,716 - 138,990,644RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,889,974 - 127,890,902UniSTS
F9_627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,643,752 - 138,644,550UniSTSGRCh37
Build 36X138,471,418 - 138,472,216RGDNCBI36
CeleraX139,011,191 - 139,011,989RGD
HuRefX127,911,184 - 127,911,983UniSTS
G10618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,645,163 - 138,645,304UniSTSGRCh37
Build 36X138,472,829 - 138,472,970RGDNCBI36
CeleraX139,012,602 - 139,012,743RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,912,571 - 127,912,712UniSTS
RH17659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,645,322 - 138,645,463UniSTSGRCh37
Build 36X138,472,988 - 138,473,129RGDNCBI36
CeleraX139,012,761 - 139,012,902RGD
Cytogenetic MapXq27.1-q27.2UniSTS
HuRefX127,912,730 - 127,912,871UniSTS
GeneMap99-GB4 RH MapX323.06UniSTS
G28615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,644,953 - 138,645,169UniSTSGRCh37
Build 36X138,472,619 - 138,472,835RGDNCBI36
CeleraX139,012,392 - 139,012,608RGD
Cytogenetic MapXq27.1-q27.2UniSTS
F9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,619,208 - 138,619,545UniSTSGRCh37
GRCh37X138,642,964 - 138,643,972UniSTSGRCh37
Build 36X138,446,874 - 138,447,211RGDNCBI36
CeleraX139,010,403 - 139,011,411UniSTS
CeleraX138,986,647 - 138,986,984RGD
HuRefX127,886,905 - 127,887,242UniSTS
HuRefX127,910,396 - 127,911,404UniSTS
F9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X138,619,208 - 138,619,545UniSTSGRCh37
GRCh37X138,642,964 - 138,643,972UniSTSGRCh37
Build 36X138,446,874 - 138,447,211RGDNCBI36
CeleraX139,010,403 - 139,011,411UniSTS
CeleraX138,986,647 - 138,986,984RGD
HuRefX127,886,905 - 127,887,242UniSTS
HuRefX127,910,396 - 127,911,404UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:787
Count of miRNA genes:577
Interacting mature miRNAs:638
Transcripts:ENST00000218099, ENST00000394090, ENST00000479617
Prediction methods:Miranda, Pita, 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
High
Medium 1 408 408 2 408 1 1
Low 12 42 21 17 37 17 16 5 4 1 3 6 10 6
Below cutoff 673 813 443 67 492 13 955 519 860 38 595 394 54 291 588

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001313913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A01819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A07407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A13997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A14017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB186358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF486577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF536327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY226143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY269424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY269425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS355175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ115887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ115888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ431840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR846238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR846239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FR846240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S68634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218099   ⟹   ENSP00000218099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,530,739 - 139,563,459 (+)Ensembl
RefSeq Acc Id: ENST00000394090   ⟹   ENSP00000377650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,530,765 - 139,562,071 (+)Ensembl
RefSeq Acc Id: ENST00000479617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,530,758 - 139,548,392 (+)Ensembl
RefSeq Acc Id: ENST00000643157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX139,544,681 - 139,563,301 (+)Ensembl
RefSeq Acc Id: NM_000133   ⟹   NP_000124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,530,739 - 139,563,459 (+)NCBI
GRCh37X138,612,889 - 138,645,617 (+)NCBI
Build 36X138,440,561 - 138,473,283 (+)NCBI Archive
HuRefX127,880,671 - 127,913,025 (+)ENTREZGENE
CHM1_1X138,523,783 - 138,556,510 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001313913   ⟹   NP_001300842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,530,739 - 139,563,459 (+)NCBI
CHM1_1X138,523,783 - 138,556,510 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262397   ⟹   XP_005262454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X139,530,720 - 139,563,459 (+)NCBI
GRCh37X138,612,889 - 138,645,617 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300842 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262454 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51981 (Get FASTA)   NCBI Sequence Viewer  
  AAA52023 (Get FASTA)   NCBI Sequence Viewer  
  AAA52456 (Get FASTA)   NCBI Sequence Viewer  
  AAA52763 (Get FASTA)   NCBI Sequence Viewer  
  AAA56822 (Get FASTA)   NCBI Sequence Viewer  
  AAA98726 (Get FASTA)   NCBI Sequence Viewer  
  AAB28588 (Get FASTA)   NCBI Sequence Viewer  
  AAB29758 (Get FASTA)   NCBI Sequence Viewer  
  AAB59620 (Get FASTA)   NCBI Sequence Viewer  
  AAD13992 (Get FASTA)   NCBI Sequence Viewer  
  AAI09215 (Get FASTA)   NCBI Sequence Viewer  
  AAI09216 (Get FASTA)   NCBI Sequence Viewer  
  AAM96188 (Get FASTA)   NCBI Sequence Viewer  
  AAO73937 (Get FASTA)   NCBI Sequence Viewer  
  AAP34372 (Get FASTA)   NCBI Sequence Viewer  
  AAP34373 (Get FASTA)   NCBI Sequence Viewer  
  AAZ05427 (Get FASTA)   NCBI Sequence Viewer  
  AAZ05428 (Get FASTA)   NCBI Sequence Viewer  
  ABF68963 (Get FASTA)   NCBI Sequence Viewer  
  ABF68964 (Get FASTA)   NCBI Sequence Viewer  
  ABF68965 (Get FASTA)   NCBI Sequence Viewer  
  ABF68966 (Get FASTA)   NCBI Sequence Viewer  
  ABF68967 (Get FASTA)   NCBI Sequence Viewer  
  ABF68968 (Get FASTA)   NCBI Sequence Viewer  
  ABF68969 (Get FASTA)   NCBI Sequence Viewer  
  ABF68970 (Get FASTA)   NCBI Sequence Viewer  
  ABF68971 (Get FASTA)   NCBI Sequence Viewer  
  ABF68972 (Get FASTA)   NCBI Sequence Viewer  
  ABF68973 (Get FASTA)   NCBI Sequence Viewer  
  ABF68974 (Get FASTA)   NCBI Sequence Viewer  
  ABF68975 (Get FASTA)   NCBI Sequence Viewer  
  ABF68976 (Get FASTA)   NCBI Sequence Viewer  
  ABF68977 (Get FASTA)   NCBI Sequence Viewer  
  ABF68978 (Get FASTA)   NCBI Sequence Viewer  
  ABF68979 (Get FASTA)   NCBI Sequence Viewer  
  ABF68980 (Get FASTA)   NCBI Sequence Viewer  
  ABF68981 (Get FASTA)   NCBI Sequence Viewer  
  ABF68982 (Get FASTA)   NCBI Sequence Viewer  
  ABF68983 (Get FASTA)   NCBI Sequence Viewer  
  ABF68984 (Get FASTA)   NCBI Sequence Viewer  
  ABF68985 (Get FASTA)   NCBI Sequence Viewer  
  ABF68986 (Get FASTA)   NCBI Sequence Viewer  
  ABF68987 (Get FASTA)   NCBI Sequence Viewer  
  ABF68988 (Get FASTA)   NCBI Sequence Viewer  
  ABF68989 (Get FASTA)   NCBI Sequence Viewer  
  ABF68990 (Get FASTA)   NCBI Sequence Viewer  
  ABF68991 (Get FASTA)   NCBI Sequence Viewer  
  ABF68992 (Get FASTA)   NCBI Sequence Viewer  
  ABF68993 (Get FASTA)   NCBI Sequence Viewer  
  ABF68994 (Get FASTA)   NCBI Sequence Viewer  
  ABF68995 (Get FASTA)   NCBI Sequence Viewer  
  ABF68996 (Get FASTA)   NCBI Sequence Viewer  
  ABF68997 (Get FASTA)   NCBI Sequence Viewer  
  ABF68998 (Get FASTA)   NCBI Sequence Viewer  
  ABF68999 (Get FASTA)   NCBI Sequence Viewer  
  ABF69000 (Get FASTA)   NCBI Sequence Viewer  
  ABF69001 (Get FASTA)   NCBI Sequence Viewer  
  ABF69002 (Get FASTA)   NCBI Sequence Viewer  
  ABF69003 (Get FASTA)   NCBI Sequence Viewer  
  ABF69004 (Get FASTA)   NCBI Sequence Viewer  
  ABF69005 (Get FASTA)   NCBI Sequence Viewer  
  ABF69006 (Get FASTA)   NCBI Sequence Viewer  
  ABF69007 (Get FASTA)   NCBI Sequence Viewer  
  ABF69008 (Get FASTA)   NCBI Sequence Viewer  
  ABF69009 (Get FASTA)   NCBI Sequence Viewer  
  ABF69010 (Get FASTA)   NCBI Sequence Viewer  
  ABF69011 (Get FASTA)   NCBI Sequence Viewer  
  ABF69012 (Get FASTA)   NCBI Sequence Viewer  
  ABF69013 (Get FASTA)   NCBI Sequence Viewer  
  ABF69014 (Get FASTA)   NCBI Sequence Viewer  
  ABF69015 (Get FASTA)   NCBI Sequence Viewer  
  ABF69016 (Get FASTA)   NCBI Sequence Viewer  
  ABF69017 (Get FASTA)   NCBI Sequence Viewer  
  ABF69018 (Get FASTA)   NCBI Sequence Viewer  
  ABF69019 (Get FASTA)   NCBI Sequence Viewer  
  ABF69020 (Get FASTA)   NCBI Sequence Viewer  
  ABF69021 (Get FASTA)   NCBI Sequence Viewer  
  ABF69022 (Get FASTA)   NCBI Sequence Viewer  
  ABF69023 (Get FASTA)   NCBI Sequence Viewer  
  ABF69024 (Get FASTA)   NCBI Sequence Viewer  
  ABF69025 (Get FASTA)   NCBI Sequence Viewer  
  ABF69026 (Get FASTA)   NCBI Sequence Viewer  
  ABF69027 (Get FASTA)   NCBI Sequence Viewer  
  ABF69028 (Get FASTA)   NCBI Sequence Viewer  
  ABF69029 (Get FASTA)   NCBI Sequence Viewer  
  BAD89383 (Get FASTA)   NCBI Sequence Viewer  
  BAF85438 (Get FASTA)   NCBI Sequence Viewer  
  CAA00205 (Get FASTA)   NCBI Sequence Viewer  
  CAA00665 (Get FASTA)   NCBI Sequence Viewer  
  CAA01140 (Get FASTA)   NCBI Sequence Viewer  
  CAA01141 (Get FASTA)   NCBI Sequence Viewer  
  CAB38245 (Get FASTA)   NCBI Sequence Viewer  
  CAL24229 (Get FASTA)   NCBI Sequence Viewer  
  CCA61110 (Get FASTA)   NCBI Sequence Viewer  
  CCA61111 (Get FASTA)   NCBI Sequence Viewer  
  CCA61112 (Get FASTA)   NCBI Sequence Viewer  
  EAW88431 (Get FASTA)   NCBI Sequence Viewer  
  EAW88432 (Get FASTA)   NCBI Sequence Viewer  
  EAW88433 (Get FASTA)   NCBI Sequence Viewer  
  EAW88434 (Get FASTA)   NCBI Sequence Viewer  
  P00740 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000124   ⟸   NM_000133
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P00740 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262454   ⟸   XM_005262397
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001300842   ⟸   NM_001313913
- Peptide Label: isoform 2 precursor
- UniProtKB: P00740 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000218099   ⟸   ENST00000218099
RefSeq Acc Id: ENSP00000377650   ⟸   ENST00000394090
Protein Domains
EGF-like   Gla   Peptidase S1

Promoters
RGD ID:6849870
Promoter ID:EP07095
Type:single initiation site
Name:HS_F9
Description:factor IX.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36X138,440,561 - 138,440,621EPD
RGD ID:13628240
Promoter ID:EPDNEW_H29396
Type:initiation region
Name:F9_1
Description:coagulation factor IX
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
GRCh38X139,530,739 - 139,530,799EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000133.3(F9):c.148G>A (p.Gly50Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000551608] ChrX:139537069 [GRCh38]
ChrX:138619228 [GRCh37]
ChrX:Xq27.1
likely pathogenic
F9, -20T-A, PROMOTER single nucleotide variant Hemophilia B Leyden [RCV000011304] ChrX:Xq27.1-q27.2 pathogenic
F9, -6G-A single nucleotide variant Hemophilia B Leyden [RCV000011305] ChrX:Xq27.1-q27.2 pathogenic
F9, -6G-C single nucleotide variant Hemophilia B Leyden [RCV000011306] ChrX:Xq27.1-q27.2 pathogenic
F9, 1-BP DEL, +13A deletion Hemophilia B Leyden [RCV000011307] ChrX:Xq27.1-q27.2 pathogenic
F9, ILE-40PHE variation FACTOR IX POLYMORPHISM [RCV000011308] ChrX:Xq27.1-q27.2 benign
F9, IVS1, 192A-G single nucleotide variant FACTOR IX POLYMORPHISM [RCV000011309] ChrX:Xq27.1-q27.2 benign
F9, ARG-4TRP single nucleotide variant Hereditary factor IX deficiency disease [RCV000011310] ChrX:Xq27.1-q27.2 pathogenic
F9, ARG-1SER variation Hereditary factor IX deficiency disease [RCV000011311] ChrX:Xq27.1-q27.2 pathogenic
E7D variation Hereditary factor IX deficiency disease [RCV000011312] ChrX:Xq27.1-q27.2 pathogenic
F9, ARG-4GLN single nucleotide variant Hereditary factor IX deficiency disease [RCV000011315] ChrX:Xq27.1-q27.2 pathogenic
F9, IVS3DS, T-G single nucleotide variant Hereditary factor IX deficiency disease [RCV000011321] ChrX:Xq27.1-q27.2 pathogenic
F9, TRP194TER variation Hereditary factor IX deficiency disease [RCV000011329] ChrX:Xq27.1-q27.2 pathogenic
F9, IVS7AS, G-A single nucleotide variant Hereditary factor IX deficiency disease [RCV000011332] ChrX:Xq27.1-q27.2 pathogenic
F9, IVS6DS, G-T single nucleotide variant Hereditary factor IX deficiency disease [RCV000011343] ChrX:Xq27.1-q27.2 pathogenic
F9, TRP215TER variation Hereditary factor IX deficiency disease [RCV000011344] ChrX:Xq27.1-q27.2 pathogenic
F9, TRP310TER variation Hereditary factor IX deficiency disease [RCV000011356] ChrX:Xq27.1-q27.2 pathogenic
F9, GLY367ARG variation Hereditary factor IX deficiency disease [RCV000011365] ChrX:Xq27.1-q27.2 pathogenic
F378L variation Hereditary factor IX deficiency disease [RCV000011367] ChrX:Xq27.1-q27.2 pathogenic
F9, EX1-8DEL deletion Hereditary factor IX deficiency disease [RCV000011374] ChrX:Xq27.1-q27.2 pathogenic
F9, EX1DEL deletion Hereditary factor IX deficiency disease [RCV000011375] ChrX:Xq27.1-q27.2 pathogenic
F9, EX1-3DEL deletion Hereditary factor IX deficiency disease [RCV000011376] ChrX:Xq27.1-q27.2 pathogenic
F9, EX2-8DEL deletion Hereditary factor IX deficiency disease [RCV000011377] ChrX:Xq27.1-q27.2 pathogenic
F9, EX4-5DEL deletion Hereditary factor IX deficiency disease [RCV000011378] ChrX:Xq27.1-q27.2 pathogenic
F9, EX4DEL deletion Hereditary factor IX deficiency disease [RCV000011379] ChrX:Xq27.1-q27.2 pathogenic
F9, EX4INS insertion Hereditary factor IX deficiency disease [RCV000011380] ChrX:Xq27.1-q27.2 pathogenic
F9, EX5-8DEL deletion Hereditary factor IX deficiency disease [RCV000011381] ChrX:Xq27.1-q27.2 pathogenic
F9, EX51INS insertion Hereditary factor IX deficiency disease [RCV000011382] ChrX:Xq27.1-q27.2 pathogenic
F9, EX7DEL deletion Hereditary factor IX deficiency disease [RCV000011383] ChrX:Xq27.1-q27.2 pathogenic
F9, 1-BP DEL, ASP85FS deletion Hereditary factor IX deficiency disease [RCV000011384] ChrX:Xq27.1-q27.2 pathogenic
F9, +8T-C single nucleotide variant Hemophilia B Leyden [RCV000011390] ChrX:Xq27.1-q27.2 pathogenic
F9, -5A-T, PROMOTER single nucleotide variant Hemophilia B Leyden [RCV000011391] ChrX:Xq27.1-q27.2 pathogenic
F9, +13A-G single nucleotide variant Hemophilia B Leyden [RCV000011392] ChrX:Xq27.1-q27.2 pathogenic
F9, IVS4, 4442-BP DEL deletion Hereditary factor IX deficiency disease [RCV000011394] ChrX:Xq27.1-q27.2 pathogenic
F9, -26G-C, PROMOTER single nucleotide variant Hemophilia B Brandenburg [RCV000011399] ChrX:Xq27.1-q27.2 pathogenic
F9, ALU INSERTION, EX5 insertion Hereditary factor IX deficiency disease [RCV000011400] ChrX:Xq27.1-q27.2 pathogenic
F9, ALA-10THR single nucleotide variant Warfarin sensitivity, x-linked [RCV000011404] ChrX:Xq27.1-q27.2 pathogenic
F9, 17747G-C single nucleotide variant Hereditary factor IX deficiency disease [RCV000011405] ChrX:Xq27.1-q27.2 pathogenic
F9, ALA-10VAL variation Warfarin sensitivity, x-linked [RCV000011406] ChrX:Xq27.1-q27.2 pathogenic
F9, 17747G-A single nucleotide variant Hereditary factor IX deficiency disease [RCV000011408] ChrX:Xq27.1-q27.2 pathogenic
NM_000133.3(F9):c.277+2T>C single nucleotide variant Hereditary factor IX deficiency disease [RCV000011409] ChrX:139537388 [GRCh38]
ChrX:138619547 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.424_425AG[1] (p.Arg142fs) microsatellite Hereditary factor IX deficiency disease [RCV000011412] ChrX:139551079..139551080 [GRCh38]
ChrX:138633238..138633239 [GRCh37]
ChrX:Xq27.1
pathogenic
F9, IVS3, A-G, -3 single nucleotide variant Hereditary factor IX deficiency disease [RCV000011415] ChrX:Xq27.1-q27.2 pathogenic
NM_000133.3(F9):c.169C>T (p.Gln57Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011313] ChrX:139537090 [GRCh38]
ChrX:138619249 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.52T>C (p.Cys18Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011314] ChrX:139530816 [GRCh38]
ChrX:138612975 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.79G>A (p.Glu27Lys) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011316] ChrX:139530843 [GRCh38]
ChrX:138613002 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.218A>T (p.Glu73Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011317] ChrX:139537139 [GRCh38]
ChrX:138619298 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.223C>T (p.Arg75Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011318]|Hereditary factor IX deficiency disease [RCV000696946]|none provided [RCV001001428] ChrX:139537144 [GRCh38]
ChrX:138619303 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.224G>A (p.Arg75Gln) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011319]|Hereditary factor VIII deficiency disease [RCV000852079]|not provided [RCV000757260] ChrX:139537145 [GRCh38]
ChrX:138619304 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
NM_000133.3(F9):c.237A>C (p.Glu79Asp) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011320] ChrX:139537158 [GRCh38]
ChrX:138619317 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.277+3690A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000011322] ChrX:139541076 [GRCh38]
ChrX:138623235 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.277+3699A>C single nucleotide variant Hereditary factor IX deficiency disease [RCV000011323] ChrX:139541085 [GRCh38]
ChrX:138623244 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.277+3713C>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000011324] ChrX:139541099 [GRCh38]
ChrX:138623258 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.316G>A (p.Gly106Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011325]|Hereditary factor IX deficiency disease [RCV000795416]|none provided [RCV000505963] ChrX:139541114 [GRCh38]
ChrX:138623273 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.277+3741A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000011326] ChrX:139541127 [GRCh38]
ChrX:138623286 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.479G>C (p.Gly160Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011327] ChrX:139548450 [GRCh38]
ChrX:138630609 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.496A>T (p.Asn166Tyr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011328] ChrX:139548467 [GRCh38]
ChrX:138630626 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.571C>T (p.Arg191Cys) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011330] ChrX:139551112 [GRCh38]
ChrX:138633271 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.572G>A (p.Arg191His) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011331]|Hereditary factor VIII deficiency disease [RCV000851602] ChrX:139551113 [GRCh38]
ChrX:138633272 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.880C>T (p.Arg294Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011333]|Hereditary factor IX deficiency disease [RCV001069256]|not specified [RCV001000167] ChrX:139561565 [GRCh38]
ChrX:138643724 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.580A>G (p.Thr194Ala) single nucleotide variant Deep venous thrombosis, protection against [RCV000011334]|Hereditary factor IX deficiency disease [RCV000396693]|none provided [RCV001282369]|not specified [RCV000244191] ChrX:139551121 [GRCh38]
ChrX:138633280 [GRCh37]
ChrX:Xq27.1
benign|protective
NM_000133.3(F9):c.655C>T (p.Gln219Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011335] ChrX:139551196 [GRCh38]
ChrX:138633355 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.676C>T (p.Arg226Trp) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011336]|none provided [RCV001286621] ChrX:139551217 [GRCh38]
ChrX:138633376 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.677G>A (p.Arg226Gln) single nucleotide variant Hemophilia b(m) [RCV000011337] ChrX:139551218 [GRCh38]
ChrX:138633377 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.541G>T (p.Val181Phe) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011338] ChrX:139551082 [GRCh38]
ChrX:138633241 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.682G>T (p.Val228Phe) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011339] ChrX:139551223 [GRCh38]
ChrX:138633382 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.682G>C (p.Val228Leu) single nucleotide variant Hemophilia b(m) [RCV000011340] ChrX:139551223 [GRCh38]
ChrX:138633382 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.709C>T (p.Gln237Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011341] ChrX:139551250 [GRCh38]
ChrX:138633409 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.710A>T (p.Gln237Leu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011342] ChrX:139551251 [GRCh38]
ChrX:138633410 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.804T>G (p.Cys268Trp) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011345] ChrX:139560821 [GRCh38]
ChrX:138642980 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.819T>C (p.Val273=) single nucleotide variant FACTOR IX, DNA POLYMORPHISM [RCV000011346]|Hereditary factor IX deficiency disease [RCV000402083]|Hereditary factor IX deficiency disease [RCV001086730]|not provided [RCV000531327] ChrX:139560836 [GRCh38]
ChrX:138642995 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.697G>A (p.Ala233Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011347] ChrX:139551238 [GRCh38]
ChrX:138633397 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.881G>A (p.Arg294Gln) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011348]|Hereditary factor IX deficiency disease [RCV000814168]|Hereditary factor VIII deficiency disease [RCV000851909] ChrX:139561566 [GRCh38]
ChrX:138643725 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.892C>T (p.Arg298Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011349]|not specified [RCV001001417] ChrX:139561577 [GRCh38]
ChrX:138643736 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.917A>G (p.Asn306Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011350] ChrX:139561602 [GRCh38]
ChrX:138643761 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.998C>T (p.Pro333Leu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011351] ChrX:139561683 [GRCh38]
ChrX:138643842 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1009G>C (p.Ala337Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011352] ChrX:139561694 [GRCh38]
ChrX:138643853 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1025C>T (p.Thr342Met) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011353]|Hereditary factor IX deficiency disease [RCV000792734]|Hereditary factor VIII deficiency disease [RCV000851963]|none provided [RCV000506908] ChrX:139561710 [GRCh38]
ChrX:138643869 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
NM_000133.3(F9):c.1058T>C (p.Val353Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011354] ChrX:139561743 [GRCh38]
ChrX:138643902 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1064G>T (p.Gly355Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011355] ChrX:139561749 [GRCh38]
ChrX:138643908 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1069G>A (p.Gly357Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011357]|Hereditary factor VIII deficiency disease [RCV000851648] ChrX:139561754 [GRCh38]
ChrX:138643913 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
NM_000133.3(F9):c.1135C>T (p.Arg379Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011358]|not specified [RCV001000157] ChrX:139561820 [GRCh38]
ChrX:138643979 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1136G>A (p.Arg379Gln) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011359]|Hereditary factor VIII deficiency disease [RCV000851995]|not specified [RCV001000156] ChrX:139561821 [GRCh38]
ChrX:138643980 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1144T>C (p.Cys382Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011360] ChrX:139561829 [GRCh38]
ChrX:138643988 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1150C>T (p.Arg384Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011361]|Hereditary factor IX deficiency disease [RCV001048961]|not specified [RCV001000158] ChrX:139561835 [GRCh38]
ChrX:138643994 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1180A>G (p.Met394Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011362] ChrX:139561865 [GRCh38]
ChrX:138644024 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1217C>T (p.Ser406Leu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011363] ChrX:139561902 [GRCh38]
ChrX:138644061 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1088G>T (p.Gly363Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011364] ChrX:139561773 [GRCh38]
ChrX:138643932 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1240C>A (p.Pro414Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011366] ChrX:139561925 [GRCh38]
ChrX:138644084 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1307C>A (p.Ala436Glu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011368] ChrX:139561992 [GRCh38]
ChrX:138644151 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1307C>T (p.Ala436Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011369] ChrX:139561992 [GRCh38]
ChrX:138644151 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1324G>A (p.Gly442Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011370] ChrX:139562009 [GRCh38]
ChrX:138644168 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1328T>C (p.Ile443Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011371]|none provided [RCV001286645] ChrX:139562013 [GRCh38]
ChrX:138644172 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1357T>C (p.Trp453Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011372] ChrX:139562042 [GRCh38]
ChrX:138644201 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1369A>T (p.Lys457Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011373] ChrX:139562054 [GRCh38]
ChrX:138644213 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1120G>T (p.Val374Phe) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011385]|not specified [RCV001001418] ChrX:139561805 [GRCh38]
ChrX:138643964 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.484C>T (p.Arg162Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011386]|not specified [RCV001000188] ChrX:139548455 [GRCh38]
ChrX:138630614 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.907C>T (p.His303Tyr) single nucleotide variant FACTOR IX POLYMORPHISM [RCV000011387]|Hereditary factor IX deficiency disease [RCV001081157]|Hereditary factor IX deficiency disease [RCV001167683]|not provided [RCV000861022] ChrX:139561592 [GRCh38]
ChrX:138643751 [GRCh37]
ChrX:Xq27.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000133.3(F9):c.1187G>C (p.Cys396Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011388] ChrX:139561872 [GRCh38]
ChrX:138644031 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.277+3740G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000011389] ChrX:139541126 [GRCh38]
ChrX:138623285 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1070G>A (p.Gly357Glu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011393]|none provided [RCV001287761] ChrX:139561755 [GRCh38]
ChrX:138643914 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1232G>T (p.Ser411Ile) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011395] ChrX:139561917 [GRCh38]
ChrX:138644076 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1231A>G (p.Ser411Gly) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011396] ChrX:139561916 [GRCh38]
ChrX:138644075 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1228G>C (p.Asp410His) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011397] ChrX:139561913 [GRCh38]
ChrX:138644072 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.872A>T (p.Glu291Val) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011398] ChrX:139561557 [GRCh38]
ChrX:138643716 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_001313913.1(F9):c.31T>A (p.Ser11Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011401] ChrX:139530795 [GRCh38]
ChrX:138612954 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.82T>C (p.Cys28Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011402] ChrX:139530846 [GRCh38]
ChrX:138613005 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1256T>A (p.Val419Glu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011403] ChrX:139561941 [GRCh38]
ChrX:138644100 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1189G>C (p.Ala397Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011407] ChrX:139561874 [GRCh38]
ChrX:138644033 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1031T>C (p.Ile344Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011410] ChrX:139561716 [GRCh38]
ChrX:138643875 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.755G>C (p.Cys252Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011411] ChrX:139560772 [GRCh38]
ChrX:138642931 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1151G>C (p.Arg384Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV000011413] ChrX:139561836 [GRCh38]
ChrX:138643995 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1151G>T (p.Arg384Leu) single nucleotide variant Hereditary factor IX deficiency disease [RCV000119810]|Thrombophilia, X-linked, due to factor IX defect [RCV000011414] ChrX:139561836 [GRCh38]
ChrX:138643995 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.1144T>A (p.Cys382Ser) single nucleotide variant not specified [RCV001002603] ChrX:139561829 [GRCh38]
ChrX:138643988 [GRCh37]
ChrX:Xq27.1
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139333024-140959375)x0 copy number loss See cases [RCV000051734] ChrX:139333024..140959375 [GRCh38]
ChrX:138415183..139986362 [GRCh37]
ChrX:138242849..139869206 [NCBI36]
ChrX:Xq27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1(chrX:139199307-139682289)x2 copy number gain See cases [RCV000054280] ChrX:139199307..139682289 [GRCh38]
ChrX:138281469..138764448 [GRCh37]
ChrX:138109135..138592114 [NCBI36]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.217G>A (p.Glu73Lys) single nucleotide variant Malignant melanoma [RCV000073092] ChrX:139537138 [GRCh38]
ChrX:138619297 [GRCh37]
ChrX:138446963 [NCBI36]
ChrX:Xq27.1
not provided
NM_000133.3(F9):c.278-3A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000077844]|Hereditary factor IX deficiency disease [RCV001072034] ChrX:139541073 [GRCh38]
ChrX:138623232 [GRCh37]
ChrX:Xq27.1
pathogenic|not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000133.4(F9):c.177C>A (p.Asn59Lys) single nucleotide variant none provided [RCV001287685] ChrX:139537098 [GRCh38]
ChrX:138619257 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138125974-147236414)x2 copy number gain See cases [RCV000167566] ChrX:138125974..147236414 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000133.3(F9):c.835G>A (p.Ala279Thr) single nucleotide variant Abnormality of coagulation [RCV000851897]|Hereditary factor IX deficiency disease [RCV000197147]|Hereditary factor VIII deficiency disease [RCV000851896]|not specified [RCV001000166] ChrX:139560852 [GRCh38]
ChrX:138643011 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.3(F9):c.391+10T>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000285272]|Hereditary factor IX deficiency disease [RCV000542609]|not specified [RCV000380346] ChrX:139541199 [GRCh38]
ChrX:138623358 [GRCh37]
ChrX:Xq27.1
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000133.3(F9):c.196G>A (p.Glu66Lys) single nucleotide variant not provided [RCV000757258] ChrX:139537117 [GRCh38]
ChrX:138619276 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.1289G>A (p.Ser430Asn) single nucleotide variant not provided [RCV000757261] ChrX:139561974 [GRCh38]
ChrX:138644133 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.934T>G (p.Tyr312Asp) single nucleotide variant not provided [RCV000757262] ChrX:139561619 [GRCh38]
ChrX:138643778 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.3(F9):c.769G>A (p.Val257Ile) single nucleotide variant Hereditary factor IX deficiency disease [RCV000490374]|Hereditary factor IX deficiency disease [RCV000862519] ChrX:139560786 [GRCh38]
ChrX:138642945 [GRCh37]
ChrX:Xq27.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.4(F9):c.839-20dup duplication not specified [RCV000249158] ChrX:139561500..139561501 [GRCh38]
ChrX:138643659..138643660 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.3(F9):c.1032C>T (p.Ile344=) single nucleotide variant not specified [RCV000254250] ChrX:139561717 [GRCh38]
ChrX:138643876 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.3(F9):c.*476C>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000270896] ChrX:139562547 [GRCh38]
ChrX:138644706 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.*197G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000315278] ChrX:139562268 [GRCh38]
ChrX:138644427 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_001313913.1(F9):c.*852_*853AC[3] microsatellite Hemophilia B, Factor IX Deficiency [RCV000316631] ChrX:139562923..139562924 [GRCh38]
ChrX:138645082..138645083 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.3(F9):c.*606G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000366729] ChrX:139562677 [GRCh38]
ChrX:138644836 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.658T>A (p.Ser220Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000279243]|Hereditary factor IX deficiency disease [RCV000862176] ChrX:139551199 [GRCh38]
ChrX:138633358 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.1110G>A (p.Gln370=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000368941]|Hereditary factor IX deficiency disease [RCV000757259]|not specified [RCV000999752] ChrX:139561795 [GRCh38]
ChrX:138643954 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.*1110del deletion Hemophilia B, Factor IX Deficiency [RCV000281362] ChrX:139563181 [GRCh38]
ChrX:138645340 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.*794A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000322025] ChrX:139562865 [GRCh38]
ChrX:138645024 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.*1048G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000373556] ChrX:139563119 [GRCh38]
ChrX:138645278 [GRCh37]
ChrX:Xq27.1
likely benign|uncertain significance
NM_000133.3(F9):c.1381A>C (p.Thr461Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV000401020]|Hereditary factor IX deficiency disease [RCV000525184] ChrX:139562066 [GRCh38]
ChrX:138644225 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.*523A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000328311] ChrX:139562594 [GRCh38]
ChrX:138644753 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.391+7A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV000377411]|Hereditary factor IX deficiency disease [RCV000555206]|none provided [RCV001000449] ChrX:139541196 [GRCh38]
ChrX:138623355 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.3(F9):c.*799A>T single nucleotide variant Hereditary factor IX deficiency disease [RCV000378968] ChrX:139562870 [GRCh38]
ChrX:138645029 [GRCh37]
ChrX:Xq27.1
likely benign|uncertain significance
NM_001313913.1(F9):c.*828_*829GT[4] microsatellite Hemophilia B, Factor IX Deficiency [RCV000287305] ChrX:139562899..139562900 [GRCh38]
ChrX:138645058..138645059 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.3(F9):c.1095A>G (p.Ser365=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000311046]|Hereditary factor IX deficiency disease [RCV000553591]|not specified [RCV001000258] ChrX:139561780 [GRCh38]
ChrX:138643939 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.19A>T (p.Ile7Phe) single nucleotide variant Hereditary factor IX deficiency disease [RCV000291239]|Hereditary factor IX deficiency disease [RCV001080823]|not provided [RCV000646761] ChrX:139530783 [GRCh38]
ChrX:138612942 [GRCh37]
ChrX:Xq27.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000133.3(F9):c.108C>T (p.Asn36=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000339274]|Hereditary factor IX deficiency disease [RCV000865380] ChrX:139537029 [GRCh38]
ChrX:138619188 [GRCh37]
ChrX:Xq27.1
benign|likely benign
NM_000133.3(F9):c.*1173_*1175del deletion Hemophilia B, Factor IX Deficiency [RCV000338661] ChrX:139563244..139563246 [GRCh38]
ChrX:138645403..138645405 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.485G>A (p.Arg162Gln) single nucleotide variant Hereditary factor IX deficiency disease [RCV000342689] ChrX:139548456 [GRCh38]
ChrX:138630615 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.*293C>T single nucleotide variant Hereditary factor IX deficiency disease [RCV000363002] ChrX:139562364 [GRCh38]
ChrX:138644523 [GRCh37]
ChrX:Xq27.1
likely benign|uncertain significance
NM_000133.3(F9):c.*687G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000265074] ChrX:139562758 [GRCh38]
ChrX:138644917 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.3(F9):c.*1399T>C single nucleotide variant Hemophilia B, Factor IX Deficiency [RCV000369818] ChrX:139563470 [GRCh38]
ChrX:138645629 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.947T>C (p.Ile316Thr) single nucleotide variant not specified [RCV001001414] ChrX:139561632 [GRCh38]
ChrX:138643791 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.127C>T (p.Arg43Trp) single nucleotide variant not specified [RCV001001419] ChrX:139537048 [GRCh38]
ChrX:138619207 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.190T>C (p.Cys64Arg) single nucleotide variant not specified [RCV001001440] ChrX:139537111 [GRCh38]
ChrX:138619270 [GRCh37]
ChrX:Xq27.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.3(F9):c.637A>T (p.Asn213Tyr) single nucleotide variant not provided [RCV000439293] ChrX:139551178 [GRCh38]
ChrX:138633337 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000133.3(F9):c.756T>G (p.Cys252Trp) single nucleotide variant Hereditary factor IX deficiency disease [RCV000497396] ChrX:139560773 [GRCh38]
ChrX:138642932 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.141T>A (p.Tyr47Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV000497960] ChrX:139537062 [GRCh38]
ChrX:138619221 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.519dup (p.Val174fs) duplication Hereditary factor IX deficiency disease [RCV000498702] ChrX:139548489..139548490 [GRCh38]
ChrX:138630648..138630649 [GRCh37]
ChrX:Xq27.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000133.3(F9):c.280G>A (p.Gly94Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV000524729] ChrX:139541078 [GRCh38]
ChrX:138623237 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NC_000023.11:g.(?_139530759)_(139562076_?)del deletion Hereditary factor IX deficiency disease [RCV000646762] ChrX:139530759..139562076 [GRCh38]
ChrX:138612918..138644235 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_000133.3(F9):c.1115T>C (p.Leu372Pro) single nucleotide variant Inborn genetic diseases [RCV000622485] ChrX:139561800 [GRCh38]
ChrX:138643959 [GRCh37]
ChrX:Xq27.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq26.3-27.1(chrX:136399075-139504489)x1 copy number loss not provided [RCV000684394] ChrX:136399075..139504489 [GRCh37]
ChrX:Xq26.3-27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138126026-138891563)x2 copy number gain not provided [RCV000684395] ChrX:138126026..138891563 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1(chrX:138325952-138931001)x3 copy number gain not provided [RCV000684396] ChrX:138325952..138931001 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1(chrX:138575424-139059289)x2 copy number gain not provided [RCV000684398] ChrX:138575424..139059289 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_000133.3(F9):c.1148T>C (p.Leu383Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV000695494] ChrX:139561833 [GRCh38]
ChrX:138643992 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.253-1G>C single nucleotide variant Hereditary factor IX deficiency disease [RCV000696357] ChrX:139537361 [GRCh38]
ChrX:138619520 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.740A>C (p.Lys247Thr) single nucleotide variant Abnormality of coagulation [RCV000851863] ChrX:139560757 [GRCh38]
ChrX:138642916 [GRCh37]
ChrX:Xq27.1
uncertain significance
NC_000023.11:g.(?_139530701)_(139563439_?)del deletion Hereditary factor IX deficiency disease [RCV000815264] ChrX:139530701..139563439 [GRCh38]
ChrX:138612860..138645598 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1024A>G (p.Thr342Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV001003927] ChrX:139561709 [GRCh38]
ChrX:138643868 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.354G>A (p.Trp118Ter) single nucleotide variant not specified [RCV001000173] ChrX:139541152 [GRCh38]
ChrX:138623311 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.719G>A (p.Trp240Ter) single nucleotide variant not specified [RCV001001415] ChrX:139551260 [GRCh38]
ChrX:138633419 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.422G>A (p.Cys141Tyr) single nucleotide variant not specified [RCV001001424] ChrX:139548393 [GRCh38]
ChrX:138630552 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.392-1G>C single nucleotide variant not specified [RCV001001429] ChrX:139548362 [GRCh38]
ChrX:138630521 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.960A>C (p.Glu320Asp) single nucleotide variant Hereditary factor IX deficiency disease [RCV000806073] ChrX:139561645 [GRCh38]
ChrX:138643804 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000133.4(F9):c.724-5_731del deletion Hereditary factor VIII deficiency disease [RCV000852198] ChrX:139560729..139560741 [GRCh38]
ChrX:138642888..138642900 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.521-35_723+84del deletion Hereditary factor VIII deficiency disease [RCV000852257] ChrX:139551026..139551347 [GRCh38]
ChrX:138633185..138633506 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000133.4(F9):c.189_191dup (p.Cys64Ter) duplication none provided [RCV001286818] ChrX:139537109..139537110 [GRCh38]
ChrX:138619268..138619269 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.277G>A (p.Asp93Asn) single nucleotide variant none provided [RCV001287778] ChrX:139537386 [GRCh38]
ChrX:138619545 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.161A>T (p.Glu54Val) single nucleotide variant not provided [RCV000756129] ChrX:139537082 [GRCh38]
ChrX:138619241 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.*1283C>G single nucleotide variant Hereditary factor IX deficiency disease [RCV001165570] ChrX:139563354 [GRCh38]
ChrX:138645513 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.3(F9):c.1256T>G (p.Val419Gly) single nucleotide variant not specified [RCV000756128] ChrX:139561941 [GRCh38]
ChrX:138644100 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.521-10A>G single nucleotide variant not provided [RCV000944582] ChrX:139551052 [GRCh38]
ChrX:138633211 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.471T>C (p.Cys157=) single nucleotide variant not provided [RCV000981973] ChrX:139548442 [GRCh38]
ChrX:138630601 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.1026G>A (p.Thr342=) single nucleotide variant not provided [RCV000944863] ChrX:139561711 [GRCh38]
ChrX:138643870 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.88+10C>G single nucleotide variant not provided [RCV000903386] ChrX:139530862 [GRCh38]
ChrX:138613021 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.768C>T (p.Ile256=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000928839] ChrX:139560785 [GRCh38]
ChrX:138642944 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.51C>T (p.Ile17=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000864557] ChrX:139530815 [GRCh38]
ChrX:138612974 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.9C>T (p.Arg3=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000983423] ChrX:139530773 [GRCh38]
ChrX:138612932 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.7C>T (p.Arg3Cys) single nucleotide variant Hereditary factor IX deficiency disease [RCV000944373] ChrX:139530771 [GRCh38]
ChrX:138612930 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.1029C>T (p.Asn343=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000868064]|Hereditary factor IX deficiency disease [RCV001274535] ChrX:139561714 [GRCh38]
ChrX:138643873 [GRCh37]
ChrX:Xq27.1
likely benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NC_000023.11:g.139530731A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV001050604] ChrX:139530731 [GRCh38]
ChrX:138612890 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.513A>G (p.Glu171=) single nucleotide variant not provided [RCV000862865] ChrX:139548484 [GRCh38]
ChrX:138630643 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.333C>T (p.Asp111=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000942613] ChrX:139541131 [GRCh38]
ChrX:138623290 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.730T>C (p.Leu244=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000867622] ChrX:139560747 [GRCh38]
ChrX:138642906 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.834C>T (p.Val278=) single nucleotide variant not provided [RCV000869133] ChrX:139560851 [GRCh38]
ChrX:138643010 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.967G>A (p.Glu323Lys) single nucleotide variant Hereditary factor IX deficiency disease [RCV000861890] ChrX:139561652 [GRCh38]
ChrX:138643811 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.391+4A>G single nucleotide variant Hereditary factor IX deficiency disease [RCV001088558]|not provided [RCV000861720] ChrX:139541193 [GRCh38]
ChrX:138623352 [GRCh37]
ChrX:Xq27.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000133.4(F9):c.89-7A>G single nucleotide variant not provided [RCV000978203] ChrX:139537003 [GRCh38]
ChrX:138619162 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.60A>G (p.Leu20=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000869859]|Hereditary factor IX deficiency disease [RCV001167104] ChrX:139530824 [GRCh38]
ChrX:138612983 [GRCh37]
ChrX:Xq27.1
likely benign|uncertain significance
NM_000133.4(F9):c.250A>G (p.Thr84Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV000862044] ChrX:139537171 [GRCh38]
ChrX:138619330 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.507C>G (p.Ser169=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000977507] ChrX:139548478 [GRCh38]
ChrX:138630637 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.1385A>G (p.Ter462=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000865559] ChrX:139562070 [GRCh38]
ChrX:138644229 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.1257G>T (p.Val419=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000862409]|Hereditary factor IX deficiency disease [RCV001276518] ChrX:139561942 [GRCh38]
ChrX:138644101 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.523C>T (p.Pro175Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV000868038] ChrX:139551064 [GRCh38]
ChrX:138633223 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.3(F9):c.88+5G>T single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851908] ChrX:139530857 [GRCh38]
ChrX:138613016 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.1067G>T (p.Trp356Leu) single nucleotide variant Abnormality of coagulation [RCV000851975] ChrX:139561752 [GRCh38]
ChrX:138643911 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.88G>A (p.Val30Ile) single nucleotide variant Hereditary factor IX deficiency disease [RCV000806960] ChrX:139530852 [GRCh38]
ChrX:138613011 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.109G>A (p.Ala37Thr) single nucleotide variant Hereditary factor IX deficiency disease [RCV000990955] ChrX:139537030 [GRCh38]
ChrX:138619189 [GRCh37]
ChrX:Xq27.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138120235-147240344)x2 copy number gain not provided [RCV000849149] ChrX:138120235..147240344 [GRCh37]
ChrX:Xq27.1-28
pathogenic
NM_000133.3(F9):c.1009G>A (p.Ala337Thr) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851629] ChrX:139561694 [GRCh38]
ChrX:138643853 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.-35G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV000795083] ChrX:139530730 [GRCh38]
ChrX:138612889 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.757G>A (p.Gly253Arg) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851869] ChrX:139560774 [GRCh38]
ChrX:138642933 [GRCh37]
ChrX:Xq27.1
likely pathogenic
GRCh37/hg19 Xq27.1(chrX:138377936-138702368)x2 copy number gain not provided [RCV000845889] ChrX:138377936..138702368 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.*621G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV001165568] ChrX:139562692 [GRCh38]
ChrX:138644851 [GRCh37]
ChrX:Xq27.1
uncertain significance
NC_000023.10:g.(?_138612860)_(139587225_?)del deletion Hereditary factor IX deficiency disease [RCV000823961] ChrX:138612860..139587225 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.239_240AC[1] (p.Asn80_Thr81insTer) microsatellite Reduced factor IX activity [RCV000788997] ChrX:139537160..139537161 [GRCh38]
ChrX:138619319..138619320 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.276del (p.Asp93fs) deletion Abnormality of coagulation [RCV000851757] ChrX:139537384 [GRCh38]
ChrX:138619543 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_000133.3(F9):c.802T>A (p.Cys268Ser) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851893] ChrX:139560819 [GRCh38]
ChrX:138642978 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.407T>C (p.Ile136Thr) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851938] ChrX:139548378 [GRCh38]
ChrX:138630537 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1241C>T (p.Pro414Leu) single nucleotide variant not specified [RCV001001421] ChrX:139561926 [GRCh38]
ChrX:138644085 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.88+1G>T single nucleotide variant not specified [RCV001001422] ChrX:139530853 [GRCh38]
ChrX:138613012 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.427C>T (p.Gln143Ter) single nucleotide variant not specified [RCV001001425] ChrX:139548398 [GRCh38]
ChrX:138630557 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) single nucleotide variant not specified [RCV001001427] ChrX:139562010 [GRCh38]
ChrX:138644169 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.260T>G (p.Phe87Cys) single nucleotide variant not specified [RCV001001438] ChrX:139537369 [GRCh38]
ChrX:138619528 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.38del (p.Gly13fs) deletion not specified [RCV001002585] ChrX:139530801 [GRCh38]
ChrX:138612960 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_000133.3(F9):c.*1157A>G single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851959] ChrX:139563228 [GRCh38]
ChrX:138645387 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.3(F9):c.88G>C (p.Val30Leu) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000852238] ChrX:139530852 [GRCh38]
ChrX:138613011 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000133.3(F9):c.1345C>T (p.Arg449Trp) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851683]|none provided [RCV001285638] ChrX:139562030 [GRCh38]
ChrX:138644189 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
NM_000133.3(F9):c.845A>G (p.His282Arg) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851898] ChrX:139561530 [GRCh38]
ChrX:138643689 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.88+1G>A single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851907] ChrX:139530853 [GRCh38]
ChrX:138613012 [GRCh37]
ChrX:Xq27.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000133.3(F9):c.1106T>C (p.Leu369Pro) single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851659] ChrX:139561791 [GRCh38]
ChrX:138643950 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.3(F9):c.520+13A>G single nucleotide variant Hereditary factor VIII deficiency disease [RCV000851944] ChrX:139548504 [GRCh38]
ChrX:138630663 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.114C>T (p.Asn38=) single nucleotide variant not provided [RCV000868945] ChrX:139537035 [GRCh38]
ChrX:138619194 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.8G>A (p.Arg3His) single nucleotide variant Hereditary factor IX deficiency disease [RCV001081775]|not provided [RCV000861920] ChrX:139530772 [GRCh38]
ChrX:138612931 [GRCh37]
ChrX:Xq27.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000133.4(F9):c.696T>C (p.Asp232=) single nucleotide variant Hereditary factor IX deficiency disease [RCV000863790] ChrX:139551237 [GRCh38]
ChrX:138633396 [GRCh37]
ChrX:Xq27.1
benign
NM_000133.4(F9):c.723+7T>C single nucleotide variant not provided [RCV000943002] ChrX:139551271 [GRCh38]
ChrX:138633430 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.122T>G (p.Leu41Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV001035253] ChrX:139537043 [GRCh38]
ChrX:138619202 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000133.4(F9):c.*1122C>A single nucleotide variant Hereditary factor IX deficiency disease [RCV001165569] ChrX:139563193 [GRCh38]
ChrX:138645352 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.482A>G (p.Tyr161Cys) single nucleotide variant Hereditary factor IX deficiency disease [RCV001238122] ChrX:139548453 [GRCh38]
ChrX:138630612 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.731T>C (p.Leu244Ser) single nucleotide variant not specified [RCV001001416] ChrX:139560748 [GRCh38]
ChrX:138642907 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.31_33delinsAT (p.Ser11fs) indel not specified [RCV001002515] ChrX:139530795..139530797 [GRCh38]
ChrX:138612954..138612956 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.914A>G (p.Tyr305Cys) single nucleotide variant Hereditary factor IX deficiency disease [RCV001003926] ChrX:139561599 [GRCh38]
ChrX:138643758 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.1078T>A (p.Phe360Ile) single nucleotide variant not specified [RCV001000152] ChrX:139561763 [GRCh38]
ChrX:138643922 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1361T>C (p.Ile454Thr) single nucleotide variant not specified [RCV001000160] ChrX:139562046 [GRCh38]
ChrX:138644205 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1173T>A (p.Tyr391Ter) single nucleotide variant not specified [RCV001000168] ChrX:139561858 [GRCh38]
ChrX:138644017 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) single nucleotide variant not specified [RCV001000172] ChrX:139541142 [GRCh38]
ChrX:138623301 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.416G>A (p.Gly139Asp) single nucleotide variant not specified [RCV001000187] ChrX:139548387 [GRCh38]
ChrX:138630546 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.803G>T (p.Cys268Phe) single nucleotide variant not specified [RCV001000189] ChrX:139560820 [GRCh38]
ChrX:138642979 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.374_379delinsAAAGG (p.Gly125fs) indel not specified [RCV001001174] ChrX:139541172..139541177 [GRCh38]
ChrX:138623331..138623336 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.459G>A (p.Val153=) single nucleotide variant not specified [RCV001001430] ChrX:139548430 [GRCh38]
ChrX:138630589 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.304T>C (p.Cys102Arg) single nucleotide variant not specified [RCV001001439] ChrX:139541102 [GRCh38]
ChrX:138623261 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1290C>A (p.Ser430Arg) single nucleotide variant not specified [RCV001002616] ChrX:139561975 [GRCh38]
ChrX:138644134 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NC_000023.11:g.(?_139541049)_(139563439_?)del deletion Hereditary factor IX deficiency disease [RCV001031447] ChrX:138623208..138645598 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.545_546del (p.Ser182fs) deletion Hereditary factor IX deficiency disease [RCV001068935] ChrX:139551085..139551086 [GRCh38]
ChrX:138633244..138633245 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.128G>A (p.Arg43Gln) single nucleotide variant not specified [RCV001000159] ChrX:139537049 [GRCh38]
ChrX:138619208 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.723+1G>A single nucleotide variant not specified [RCV001000170] ChrX:139551265 [GRCh38]
ChrX:138633424 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) single nucleotide variant not specified [RCV001001426] ChrX:139561989 [GRCh38]
ChrX:138644148 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.88+5_88+8del microsatellite Hereditary factor IX deficiency disease [RCV001265099]|not specified [RCV001002512] ChrX:139530853..139530856 [GRCh38]
ChrX:138613012..138613015 [GRCh37]
ChrX:Xq27.1
pathogenic|likely pathogenic
NM_000133.4(F9):c.582T>G (p.Thr194=) single nucleotide variant Hereditary factor IX deficiency disease [RCV001167681]|not provided [RCV001253856] ChrX:139551123 [GRCh38]
ChrX:138633282 [GRCh37]
ChrX:Xq27.1
benign|uncertain significance
NM_000133.4(F9):c.612T>C (p.Ser204=) single nucleotide variant Hereditary factor IX deficiency disease [RCV001167682] ChrX:139551153 [GRCh38]
ChrX:138633312 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1255G>A (p.Val419Met) single nucleotide variant Hereditary factor IX deficiency disease [RCV001036203] ChrX:139561940 [GRCh38]
ChrX:138644099 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) single nucleotide variant not specified [RCV001000169] ChrX:139561859 [GRCh38]
ChrX:138644018 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.613A>G (p.Thr205Ala) single nucleotide variant not specified [RCV001001248] ChrX:139551154 [GRCh38]
ChrX:138633313 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1106_1113del (p.Leu369fs) deletion not specified [RCV001001249] ChrX:139561790..139561797 [GRCh38]
ChrX:138643949..138643956 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.252+5G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV001265096]|not specified [RCV001001423] ChrX:139537178 [GRCh38]
ChrX:138619337 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.509G>A (p.Cys170Tyr) single nucleotide variant not specified [RCV001001432] ChrX:139548480 [GRCh38]
ChrX:138630639 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.533G>T (p.Cys178Phe) single nucleotide variant not specified [RCV001001433] ChrX:139551074 [GRCh38]
ChrX:138633233 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.226G>A (p.Glu76Lys) single nucleotide variant not specified [RCV001001434] ChrX:139537147 [GRCh38]
ChrX:138619306 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.855G>C (p.Glu285Asp) single nucleotide variant Thrombophilia, X-linked, due to factor IX defect [RCV001028011] ChrX:139561540 [GRCh38]
ChrX:138643699 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000133.4(F9):c.720G>A (p.Trp240Ter) single nucleotide variant not specified [RCV001000165] ChrX:139551261 [GRCh38]
ChrX:138633420 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1186T>A (p.Cys396Ser) single nucleotide variant not specified [RCV001000171] ChrX:139561871 [GRCh38]
ChrX:138644030 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1211_1212insGAGAT (p.Asp405fs) insertion not specified [RCV001001215] ChrX:139561896..139561897 [GRCh38]
ChrX:138644055..138644056 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.189A>C (p.Glu63Asp) single nucleotide variant not specified [RCV001001243] ChrX:139537110 [GRCh38]
ChrX:138619269 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter) single nucleotide variant not specified [RCV001001420] ChrX:139561798 [GRCh38]
ChrX:138643957 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.520G>A (p.Val174Met) single nucleotide variant not specified [RCV001001431] ChrX:139548491 [GRCh38]
ChrX:138630650 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.44T>A (p.Ile15Asn) single nucleotide variant Hereditary factor IX deficiency disease [RCV001202940] ChrX:139530808 [GRCh38]
ChrX:138612967 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1295G>C (p.Gly432Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV001039346] ChrX:139561980 [GRCh38]
ChrX:138644139 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.1332T>C (p.Tyr444=) single nucleotide variant Hereditary factor IX deficiency disease [RCV001253983] ChrX:139562017 [GRCh38]
ChrX:138644176 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1005C>G (p.Cys335Trp) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265097] ChrX:139561690 [GRCh38]
ChrX:138643849 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del) deletion Hereditary factor IX deficiency disease [RCV001265100] ChrX:139561565..139561576 [GRCh38]
ChrX:138643724..138643735 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.214G>T (p.Glu72Ter) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265101] ChrX:139537135 [GRCh38]
ChrX:138619294 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.284A>C (p.Asp95Ala) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265102] ChrX:139541082 [GRCh38]
ChrX:138623241 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.*10G>C single nucleotide variant Hereditary factor IX deficiency disease [RCV001278796] ChrX:139562081 [GRCh38]
ChrX:138644240 [GRCh37]
ChrX:Xq27.1
likely benign
NM_000133.4(F9):c.1151G>A (p.Arg384Gln) single nucleotide variant Inborn genetic diseases [RCV001266976] ChrX:139561836 [GRCh38]
ChrX:138643995 [GRCh37]
ChrX:Xq27.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000133.4(F9):c.142A>T (p.Asn48Tyr) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265098] ChrX:139537063 [GRCh38]
ChrX:138619222 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.887T>A (p.Val296Glu) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265103] ChrX:139561572 [GRCh38]
ChrX:138643731 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.401G>C (p.Cys134Ser) single nucleotide variant Hereditary factor IX deficiency disease [RCV001265104] ChrX:139548372 [GRCh38]
ChrX:138630531 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.277+1G>A single nucleotide variant Hereditary factor IX deficiency disease [RCV001265105] ChrX:139537387 [GRCh38]
ChrX:138619546 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_000133.4(F9):c.517G>A (p.Ala173Thr) single nucleotide variant none provided [RCV001284869] ChrX:139548488 [GRCh38]
ChrX:138630647 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.471T>A (p.Cys157Ter) single nucleotide variant none provided [RCV001285134] ChrX:139548442 [GRCh38]
ChrX:138630601 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.1276A>C (p.Thr426Pro) single nucleotide variant Hereditary factor IX deficiency disease [RCV001342917] ChrX:139561961 [GRCh38]
ChrX:138644120 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.206G>A (p.Cys69Tyr) single nucleotide variant none provided [RCV001287760] ChrX:139537127 [GRCh38]
ChrX:138619286 [GRCh37]
ChrX:Xq27.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000133.4(F9):c.1039A>G (p.Lys347Glu) single nucleotide variant not provided [RCV001311407] ChrX:139561724 [GRCh38]
ChrX:138643883 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.235G>A (p.Glu79Lys) single nucleotide variant none provided [RCV001286620] ChrX:139537156 [GRCh38]
ChrX:138619315 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.128G>T (p.Arg43Leu) single nucleotide variant none provided [RCV001285133] ChrX:139537049 [GRCh38]
ChrX:138619208 [GRCh37]
ChrX:Xq27.1
pathogenic
NM_000133.4(F9):c.364G>A (p.Gly122Arg) single nucleotide variant Hereditary factor IX deficiency disease [RCV001327375] ChrX:139541162 [GRCh38]
ChrX:138623321 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1210A>G (p.Arg404Gly) single nucleotide variant Hereditary factor IX deficiency disease [RCV001278795] ChrX:139561895 [GRCh38]
ChrX:138644054 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.1229A>T (p.Asp410Val) single nucleotide variant none provided [RCV001286644] ChrX:139561914 [GRCh38]
ChrX:138644073 [GRCh37]
ChrX:Xq27.1
likely pathogenic
NM_000133.4(F9):c.54C>T (p.Cys18=) single nucleotide variant Hereditary factor IX deficiency disease [RCV001278793] ChrX:139530818 [GRCh38]
ChrX:138612977 [GRCh37]
ChrX:Xq27.1
uncertain significance
NM_000133.4(F9):c.584T>A (p.Val195Asp) single nucleotide variant Hereditary factor IX deficiency disease [RCV001278794] ChrX:139551125 [GRCh38]
ChrX:138633284 [GRCh37]
ChrX:Xq27.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3551 AgrOrtholog
COSMIC F9 COSMIC
Ensembl Genes ENSG00000101981 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000218099 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377650 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000218099 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394090 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101981 GTEx
HGNC ID HGNC:3551 ENTREZGENE
Human Proteome Map F9 Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Coagulation_factor_IX 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
  GLA-like_dom_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S1A_FX UniProtKB/Swiss-Prot
  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:2158 UniProtKB/Swiss-Prot
NCBI Gene 2158 ENTREZGENE
OMIM 300746 OMIM
  300807 OMIM
  301052 OMIM
  306900 OMIM
PANTHER PTHR24278:SF31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gla UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB F9 RGD, PharmGKB
PIRSF Factor_X UniProtKB/Swiss-Prot
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, 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
  GLA_1 UniProtKB/Swiss-Prot
  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 SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt FA9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q19UG1_HUMAN UniProtKB/TrEMBL
  Q19UG2_HUMAN UniProtKB/TrEMBL
  Q19UG3_HUMAN UniProtKB/TrEMBL
  Q19UG4_HUMAN UniProtKB/TrEMBL
  Q19UG5_HUMAN UniProtKB/TrEMBL
  Q19UG6_HUMAN UniProtKB/TrEMBL
  Q19UG8_HUMAN UniProtKB/TrEMBL
  Q19UG9_HUMAN UniProtKB/TrEMBL
  Q19UH5_HUMAN UniProtKB/TrEMBL
  Q19UH6_HUMAN UniProtKB/TrEMBL
  Q19UH8_HUMAN UniProtKB/TrEMBL
  Q19UH9_HUMAN UniProtKB/TrEMBL
  Q19UI1_HUMAN UniProtKB/TrEMBL
  Q19UI2_HUMAN UniProtKB/TrEMBL
  Q19UI3_HUMAN UniProtKB/TrEMBL
  Q19UI4_HUMAN UniProtKB/TrEMBL
  Q19UI5_HUMAN UniProtKB/TrEMBL
  Q19UI6_HUMAN UniProtKB/TrEMBL
  Q19UJ0_HUMAN UniProtKB/TrEMBL
  Q19UJ1_HUMAN UniProtKB/TrEMBL
  Q19UJ4_HUMAN UniProtKB/TrEMBL
  Q19UJ5_HUMAN UniProtKB/TrEMBL
  Q19UJ6_HUMAN UniProtKB/TrEMBL
  Q19UJ7_HUMAN UniProtKB/TrEMBL
  Q19UJ9_HUMAN UniProtKB/TrEMBL
  Q19UK0_HUMAN UniProtKB/TrEMBL
  Q19UK1_HUMAN UniProtKB/TrEMBL
  Q19UK3_HUMAN UniProtKB/TrEMBL
  Q19UK4_HUMAN UniProtKB/TrEMBL
  Q19UK5_HUMAN UniProtKB/TrEMBL
  Q19UK6_HUMAN UniProtKB/TrEMBL
  Q19UK7_HUMAN UniProtKB/TrEMBL
  Q19UK8_HUMAN UniProtKB/TrEMBL
  Q19UK9_HUMAN UniProtKB/TrEMBL
  Q19UL0_HUMAN UniProtKB/TrEMBL
  Q19UL1_HUMAN UniProtKB/TrEMBL
  Q19UL3_HUMAN UniProtKB/TrEMBL
  Q19UL5_HUMAN UniProtKB/TrEMBL
  Q19UL6_HUMAN UniProtKB/TrEMBL
  Q19UL8_HUMAN UniProtKB/TrEMBL
  Q19UM0_HUMAN UniProtKB/TrEMBL
  Q19UM1_HUMAN UniProtKB/TrEMBL
  Q19UM2_HUMAN UniProtKB/TrEMBL
  Q7Z7N0_HUMAN UniProtKB/TrEMBL
  Q86XR9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K9N4 UniProtKB/Swiss-Prot
  F2RM36 UniProtKB/Swiss-Prot
  Q5FBE1 UniProtKB/Swiss-Prot
  Q5JYJ8 UniProtKB/Swiss-Prot