FGF9 (fibroblast growth factor 9) - Rat Genome Database

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Gene: FGF9 (fibroblast growth factor 9) Homo sapiens
Analyze
Symbol: FGF9
Name: fibroblast growth factor 9
RGD ID: 735806
HGNC Page HGNC:3687
Description: Predicted to enable fibroblast growth factor receptor binding activity and growth factor activity. Involved in male gonad development and positive regulation of vascular associated smooth muscle cell proliferation. Acts upstream of or within fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Located in extracellular space. Implicated in kidney cancer and multiple synostoses syndrome 3. Biomarker of lung adenocarcinoma; lung non-small cell carcinoma; and lung squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FGF-9; fibroblast growth factor 9 (glia-activating factor); GAF; glia-activating factor; HBFG-9; HBGF-9; heparin-binding growth factor 9; MGC119914; MGC119915; SYNS3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381321,671,073 - 21,704,498 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1321,671,073 - 21,704,498 (+)EnsemblGRCh38hg38GRCh38
GRCh371322,245,212 - 22,278,637 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361321,143,875 - 21,174,187 (+)NCBINCBI36Build 36hg18NCBI36
Build 341321,143,874 - 21,174,184NCBI
Celera133,307,609 - 3,341,037 (+)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef133,046,835 - 3,080,256 (+)NCBIHuRef
CHM1_11322,213,000 - 22,246,423 (+)NCBICHM1_1
T2T-CHM13v2.01320,865,413 - 20,898,835 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2,3,7,8-Pentachlorodibenzodioxin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
15-acetyldeoxynivalenol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,4,7,8-Pentachlorodibenzofuran  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-Nitrobenzanthrone  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (EXP)
beta-D-glucosamine  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
CHIR 99021  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
colforsin daropate hydrochloride  (EXP)
cordycepin  (ISO)
cortisol  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (EXP)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
dimethoxyflavone  (EXP)
dimethylarsinic acid  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
ethylparaben  (EXP)
fenvalerate  (ISO)
fulvestrant  (EXP,ISO)
irinotecan  (EXP)
iron dichloride  (EXP)
isopentenyl diphosphate  (EXP)
lipopolysaccharide  (EXP,ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
neocuproine  (ISO)
nitrofen  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
pentachlorobiphenyl  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
polycyclic arene  (EXP)
potassium dichromate  (ISO)
pregnenolone  (EXP)
progesterone  (EXP,ISO)
Ptaquiloside  (ISO)
raloxifene  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
SB-202190  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (EXP)
titanium dioxide  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trilostane  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IEA,ISO)
angiogenesis  (IEA,ISO)
animal organ morphogenesis  (IBA,IEA)
canonical Wnt signaling pathway  (IEA,ISO)
cardiac muscle cell proliferation  (IEA,ISO)
cell differentiation  (IBA,IEA)
cell population proliferation  (IEA,ISO)
cell-cell signaling  (IEA,ISO,TAS)
chondrocyte differentiation  (IEA,ISO)
embryonic digestive tract development  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
embryonic skeletal system development  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
eye development  (IEA)
fibroblast growth factor receptor signaling pathway  (IBA,IEA,IGI,ISO)
inner ear morphogenesis  (IEA,ISO)
lung development  (IEA,ISO)
lung-associated mesenchyme development  (IEA,ISO)
male gonad development  (IEA,IEP,ISO)
male sex determination  (IEA,ISO)
mesenchymal cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of vascular associated smooth muscle cell differentiation involved in phenotypic switching  (ISS)
negative regulation of Wnt signaling pathway  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
positive regulation of activin receptor signaling pathway  (IEA,ISO)
positive regulation of canonical Wnt signaling pathway  (IEA,ISO)
positive regulation of cardiac muscle cell proliferation  (IEA,ISO)
positive regulation of cell division  (IEA)
positive regulation of cell population proliferation  (IBA,IDA,IEA,ISO)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of gene expression  (IBA,IEA,ISO)
positive regulation of MAPK cascade  (IBA)
positive regulation of mesenchymal cell proliferation  (IEA,ISO)
positive regulation of protein phosphorylation  (IBA,IEA)
positive regulation of reproductive process  (IEA)
positive regulation of smoothened signaling pathway  (IEA,ISO)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of vascular associated smooth muscle cell migration  (ISS)
positive regulation of vascular associated smooth muscle cell proliferation  (IGI,ISS)
positive regulation of vascular endothelial growth factor receptor signaling pathway  (IEA,ISO)
protein import into nucleus  (IEA,ISO)
regulation of cell migration  (IBA,IEA)
regulation of timing of cell differentiation  (IEA,ISO)
Sertoli cell proliferation  (IEA,ISO)
signal transduction  (TAS)
smoothened signaling pathway  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
substantia nigra development  (HEP)
vascular endothelial growth factor receptor signaling pathway  (IEA,ISO)
Wnt signaling pathway  (IEA,ISO)

Cellular Component
basement membrane  (ISO)
cytoplasm  (IBA,IEA)
extracellular region  (IEA,TAS)
extracellular space  (IBA,IDA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. FGFR4 Gly388Arg polymorphism may affect the clinical stage of patients with lung cancer by modulating the transcriptional profile of normal lung. Falvella FS, etal., Int J Cancer. 2009 Jun 15;124(12):2880-5. doi: 10.1002/ijc.24302.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. MiR-187 suppresses non-small-cell lung cancer cell proliferation by targeting FGF9. Liang Z, etal., Bioengineered. 2020 Dec;11(1):70-80. doi: 10.1080/21655979.2019.1706287.
4. Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property. Miyamoto M, etal., Mol Cell Biol 1993 Jul;13(7):4251-9.
5. Expression of fibroblast growth factor 9 is associated with poor prognosis in patients with resected non-small cell lung cancer. Ohgino K, etal., Lung Cancer. 2014 Jan;83(1):90-6. doi: 10.1016/j.lungcan.2013.10.016. Epub 2013 Oct 30.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Potential roles of fibroblast growth factor-9 in the benzo(a)pyrene-induced invasion in vitro and the metastasis of human lung adenocarcinoma. Ueng TH, etal., Arch Toxicol. 2010 Aug;84(8):651-60. doi: 10.1007/s00204-010-0547-3. Epub 2010 May 13.
14. Aryl hydrocarbon receptor activation and overexpression upregulated fibroblast growth factor-9 in human lung adenocarcinomas. Wang CK, etal., Int J Cancer. 2009 Aug 15;125(4):807-15. doi: 10.1002/ijc.24348.
15. MiR-372-3p promotes cell growth and metastasis by targeting FGF9 in lung squamous cell carcinoma. Wang Q, etal., Cancer Med. 2017 Jun;6(6):1323-1330. doi: 10.1002/cam4.1026. Epub 2017 Apr 24.
16. Fibroblast Growth Factor 9 Imparts Hierarchy and Vasoreactivity to the Microcirculation of Renal Tumors and Suppresses Metastases. Yin H, etal., J Biol Chem. 2015 Sep 4;290(36):22127-42. doi: 10.1074/jbc.M115.652222. Epub 2015 Jul 16.
Additional References at PubMed
PMID:1697263   PMID:8428960   PMID:8575785   PMID:8576175   PMID:8663044   PMID:9121694   PMID:9139660   PMID:9507114   PMID:10362017   PMID:10544294   PMID:10574949   PMID:10579907  
PMID:11060292   PMID:11223514   PMID:11294897   PMID:12072406   PMID:12477932   PMID:12565813   PMID:12660731   PMID:14534538   PMID:14602803   PMID:14702039   PMID:15057823   PMID:15199049  
PMID:15489334   PMID:15780951   PMID:16540513   PMID:16597617   PMID:16982695   PMID:17133345   PMID:17154280   PMID:17848411   PMID:18165946   PMID:18199118   PMID:18593907   PMID:18618013  
PMID:19460469   PMID:19564416   PMID:19589401   PMID:20424473   PMID:20634891   PMID:20819778   PMID:21048031   PMID:21499246   PMID:21666490   PMID:21873635   PMID:22006051   PMID:22920789  
PMID:22926577   PMID:22939835   PMID:23291589   PMID:23376485   PMID:23727932   PMID:23797050   PMID:23898208   PMID:24011613   PMID:24015269   PMID:24135036   PMID:24334956   PMID:24511001  
PMID:24529757   PMID:25766327   PMID:25907862   PMID:25925261   PMID:25978641   PMID:26351673   PMID:26773067   PMID:26916220   PMID:27166269   PMID:27339175   PMID:27511275   PMID:27816766  
PMID:28169396   PMID:28514442   PMID:28730625   PMID:28757146   PMID:29118903   PMID:29904943   PMID:30227870   PMID:30496126   PMID:30646925   PMID:30999114   PMID:31078532   PMID:31735119  
PMID:31836511   PMID:31867983   PMID:32161315   PMID:32366371   PMID:32885717   PMID:33107118   PMID:33140402   PMID:33174625   PMID:33234721   PMID:33316109   PMID:33456347   PMID:33577925  
PMID:33733860   PMID:33961781   PMID:34083250   PMID:34490480   PMID:35190498   PMID:35675358   PMID:36358989   PMID:38657094  


Genomics

Comparative Map Data
FGF9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381321,671,073 - 21,704,498 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1321,671,073 - 21,704,498 (+)EnsemblGRCh38hg38GRCh38
GRCh371322,245,212 - 22,278,637 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361321,143,875 - 21,174,187 (+)NCBINCBI36Build 36hg18NCBI36
Build 341321,143,874 - 21,174,184NCBI
Celera133,307,609 - 3,341,037 (+)NCBICelera
Cytogenetic Map13q12.11NCBI
HuRef133,046,835 - 3,080,256 (+)NCBIHuRef
CHM1_11322,213,000 - 22,246,423 (+)NCBICHM1_1
T2T-CHM13v2.01320,865,413 - 20,898,835 (+)NCBIT2T-CHM13v2.0
Fgf9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391458,308,543 - 58,350,311 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1458,308,004 - 58,350,177 (+)EnsemblGRCm39 Ensembl
GRCm381458,070,671 - 58,112,854 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1458,070,547 - 58,112,720 (+)EnsemblGRCm38mm10GRCm38
MGSCv371458,691,523 - 58,731,557 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361457,027,028 - 57,063,760 (+)NCBIMGSCv36mm8
Celera1455,871,134 - 55,911,011 (+)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1430.51NCBI
Fgf9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81536,325,552 - 36,369,995 (+)NCBIGRCr8
mRatBN7.21532,208,993 - 32,254,952 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1532,210,074 - 32,253,309 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1534,203,142 - 34,243,439 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01535,353,796 - 35,394,102 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01533,611,906 - 33,652,213 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01538,341,657 - 38,386,945 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1538,341,089 - 38,387,316 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01542,177,371 - 42,217,450 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41537,115,068 - 37,155,652 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11537,130,767 - 37,171,321 (+)NCBI
Celera1531,921,635 - 31,961,962 (+)NCBICelera
Cytogenetic Map15p12NCBI
Fgf9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554972,199,409 - 2,235,893 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554972,199,424 - 2,232,088 (+)NCBIChiLan1.0ChiLan1.0
FGF9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21421,271,559 - 21,304,418 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11312,387,563 - 12,420,375 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0132,967,713 - 3,000,554 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11321,273,333 - 21,307,198 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1321,273,333 - 21,307,198 (+)Ensemblpanpan1.1panPan2
FGF9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12516,630,321 - 16,665,935 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2516,632,812 - 16,663,550 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2516,728,400 - 16,763,892 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02516,767,716 - 16,803,279 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2516,767,644 - 16,801,015 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12516,642,693 - 16,678,281 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02516,653,564 - 16,689,105 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02516,710,104 - 16,745,663 (-)NCBIUU_Cfam_GSD_1.0
Fgf9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945118,734,717 - 118,769,086 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936720279,521 - 316,674 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936720282,291 - 316,629 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FGF9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl111,554,763 - 1,582,408 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1111,554,648 - 1,581,938 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.211693,995 - 718,579 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FGF9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.131,779,126 - 1,811,427 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl31,779,192 - 1,812,784 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605742,772,329 - 42,805,568 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fgf9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477616,019,835 - 16,055,498 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477616,022,118 - 16,055,413 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FGF9
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002010.3(FGF9):c.296G>A (p.Ser99Asn) single nucleotide variant Multiple synostoses syndrome 3 [RCV000009242] Chr13:21681060 [GRCh38]
Chr13:22255199 [GRCh37]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:19837195-22574567)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051347]|See cases [RCV000051347] Chr13:19837195..22574567 [GRCh38]
Chr13:20411335..23148706 [GRCh37]
Chr13:19309335..22046706 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1 copy number loss See cases [RCV000051348] Chr13:20026650..21967789 [GRCh38]
Chr13:20600790..22541928 [GRCh37]
Chr13:19498790..21439928 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-22904755)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053733]|See cases [RCV000053733] Chr13:19837395..22904755 [GRCh38]
Chr13:20411535..23478894 [GRCh37]
Chr13:19309535..22376894 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
NM_002010.3(FGF9):c.*7C>T single nucleotide variant FGF9-related condition [RCV003944492] Chr13:21701442 [GRCh38]
Chr13:22275581 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.2(FGF9):c.176G>A (p.Gly59Glu) single nucleotide variant Malignant melanoma [RCV000070311] Chr13:21672088 [GRCh38]
Chr13:22246227 [GRCh37]
Chr13:21144227 [NCBI36]
Chr13:13q12.11		 not provided
NM_002010.2(FGF9):c.394C>T (p.Gln132Ter) single nucleotide variant Malignant melanoma [RCV000070312] Chr13:21701202 [GRCh38]
Chr13:22275341 [GRCh37]
Chr13:21173341 [NCBI36]
Chr13:13q12.11		 not provided
NM_002010.2(FGF9):c.505G>A (p.Asp169Asn) single nucleotide variant Malignant melanoma [RCV000070313] Chr13:21701313 [GRCh38]
Chr13:22275452 [GRCh37]
Chr13:21173452 [NCBI36]
Chr13:13q12.11		 not provided
NM_002010.2(FGF9):c.603T>C (p.Tyr201=) single nucleotide variant Malignant melanoma [RCV000070314] Chr13:21701411 [GRCh38]
Chr13:22275550 [GRCh37]
Chr13:21173550 [NCBI36]
Chr13:13q12.11		 not provided
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1 copy number loss See cases [RCV000134754] Chr13:19885283..22014498 [GRCh38]
Chr13:20459423..22588637 [GRCh37]
Chr13:19357423..21486637 [NCBI36]
Chr13:13q12.11		 pathogenic
GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1 copy number loss See cases [RCV000137093] Chr13:19837395..21967789 [GRCh38]
Chr13:20411535..22541928 [GRCh37]
Chr13:19309535..21439928 [NCBI36]
Chr13:13q12.11		 uncertain significance
GRCh38/hg38 13q12.11-12.12(chr13:21164677-22802191)x3 copy number gain See cases [RCV000137123] Chr13:21164677..22802191 [GRCh38]
Chr13:21738816..23376330 [GRCh37]
Chr13:20636816..22274330 [NCBI36]
Chr13:13q12.11-12.12		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3 copy number gain See cases [RCV000142006] Chr13:18862146..22489174 [GRCh38]
Chr13:19436286..23063313 [GRCh37]
Chr13:18334286..21961313 [NCBI36]
Chr13:13q11-12.11		 pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 copy number loss See cases [RCV000143197] Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_002010.3(FGF9):c.*372A>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000341431] Chr13:21701807 [GRCh38]
Chr13:22275946 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.-726C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000356691] Chr13:21671187 [GRCh38]
Chr13:22245326 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*2965C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000329573] Chr13:21704400 [GRCh38]
Chr13:22278539 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*9G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000308542]|not specified [RCV001529085] Chr13:21701444 [GRCh38]
Chr13:22275583 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*1741C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000309336] Chr13:21703176 [GRCh38]
Chr13:22277315 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-429G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000320865] Chr13:21671484 [GRCh38]
Chr13:22245623 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*266G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000274020] Chr13:21701701 [GRCh38]
Chr13:22275840 [GRCh37]
Chr13:13q12.11		 benign|uncertain significance
NM_002010.3(FGF9):c.*2325A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000297030] Chr13:21703760 [GRCh38]
Chr13:22277899 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-777G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000299493] Chr13:21671136 [GRCh38]
Chr13:22245275 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*355C>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000305315] Chr13:21701790 [GRCh38]
Chr13:22275929 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-118_-117insC insertion Symphalangism-brachydactyly syndrome [RCV000295849] Chr13:21671795..21671796 [GRCh38]
Chr13:22245934..22245935 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.*1094C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000284401] Chr13:21702529 [GRCh38]
Chr13:22276668 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.516G>T (p.Pro172=) single nucleotide variant Multiple synostoses syndrome 3 [RCV000267386]|not provided [RCV002056362] Chr13:21701324 [GRCh38]
Chr13:22275463 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*2585C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000268520] Chr13:21704020 [GRCh38]
Chr13:22278159 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*566T>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000277371] Chr13:21702001 [GRCh38]
Chr13:22276140 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*2787G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000288332] Chr13:21704222 [GRCh38]
Chr13:22278361 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1471C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000289300] Chr13:21702906 [GRCh38]
Chr13:22277045 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.-151G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000289443] Chr13:21671762 [GRCh38]
Chr13:22245901 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.327C>T (p.Gly109=) single nucleotide variant Multiple synostoses syndrome 3 [RCV000302615]|not provided [RCV000888303] Chr13:21681091 [GRCh38]
Chr13:22255230 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*1604C>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000401250] Chr13:21703039 [GRCh38]
Chr13:22277178 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-796C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000403600] Chr13:21671117 [GRCh38]
Chr13:22245256 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.-712C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000259694] Chr13:21671201 [GRCh38]
Chr13:22245340 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.283C>G (p.Leu95Val) single nucleotide variant Multiple synostoses syndrome 3 [RCV000393748]|not provided [RCV001859866] Chr13:21681047 [GRCh38]
Chr13:22255186 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*1360C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000379046] Chr13:21702795 [GRCh38]
Chr13:22276934 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*442T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV000365691] Chr13:21701877 [GRCh38]
Chr13:22276016 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*516C>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000367234] Chr13:21701951 [GRCh38]
Chr13:22276090 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*2634C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000382947] Chr13:21704069 [GRCh38]
Chr13:22278208 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-118_-117dup duplication Symphalangism-brachydactyly syndrome [RCV000398437] Chr13:21671788..21671789 [GRCh38]
Chr13:22245927..22245928 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.447A>G (p.Ser149=) single nucleotide variant Multiple synostoses syndrome 3 [RCV000361942]|not provided [RCV002056361]|not specified [RCV001529607] Chr13:21701255 [GRCh38]
Chr13:22275394 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*56C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000362970] Chr13:21701491 [GRCh38]
Chr13:22275630 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*996A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000374220] Chr13:21702431 [GRCh38]
Chr13:22276570 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*318G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000407081] Chr13:21701753 [GRCh38]
Chr13:22275892 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*1877G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000391877] Chr13:21703312 [GRCh38]
Chr13:22277451 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-414C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000377839] Chr13:21671499 [GRCh38]
Chr13:22245638 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-45C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000393749] Chr13:21671868 [GRCh38]
Chr13:22246007 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2186T>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000369328] Chr13:21703621 [GRCh38]
Chr13:22277760 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.-171A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000381529] Chr13:21671742 [GRCh38]
Chr13:22245881 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*2563G>C single nucleotide variant Multiple synostoses syndrome 3 [RCV000357595] Chr13:21703998 [GRCh38]
Chr13:22278137 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.-703C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000317219] Chr13:21671210 [GRCh38]
Chr13:22245349 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*1847G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000350241] Chr13:21703282 [GRCh38]
Chr13:22277421 [GRCh37]
Chr13:13q12.11		 likely benign|uncertain significance
NM_002010.3(FGF9):c.*496C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000312149] Chr13:21701931 [GRCh38]
Chr13:22276070 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*306A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000340902] Chr13:21701741 [GRCh38]
Chr13:22275880 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*208G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000328352] Chr13:21701643 [GRCh38]
Chr13:22275782 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.-256G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000329135] Chr13:21671657 [GRCh38]
Chr13:22245796 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.278-14C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000356376]|not provided [RCV001597068]|not specified [RCV001529432] Chr13:21681028 [GRCh38]
Chr13:22255167 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*1266A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000343062] Chr13:21702701 [GRCh38]
Chr13:22276840 [GRCh37]
Chr13:13q12.11		 benign|likely benign
NM_002010.3(FGF9):c.*276GT[16] microsatellite Symphalangism-brachydactyly syndrome [RCV000335059] Chr13:21701709..21701710 [GRCh38]
Chr13:22275848..22275849 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-117dup duplication Symphalangism-brachydactyly syndrome [RCV000351448] Chr13:21671788..21671789 [GRCh38]
Chr13:22245927..22245928 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*276GT[19] microsatellite Symphalangism-brachydactyly syndrome [RCV000375602] Chr13:21701709..21701710 [GRCh38]
Chr13:22275848..22275849 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-335del deletion Symphalangism-brachydactyly syndrome [RCV000290566] Chr13:21671571 [GRCh38]
Chr13:22245710 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*479CTTA[1] microsatellite Symphalangism-brachydactyly syndrome [RCV000271116] Chr13:21701914..21701917 [GRCh38]
Chr13:22276053..22276056 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*274_*275del deletion Symphalangism-brachydactyly syndrome [RCV000279872] Chr13:21701708..21701709 [GRCh38]
Chr13:22275847..22275848 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-452A>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000268182] Chr13:21671461 [GRCh38]
Chr13:22245600 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*124C>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000273274] Chr13:21701559 [GRCh38]
Chr13:22275698 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*276GT[14] microsatellite Symphalangism-brachydactyly syndrome [RCV000281185] Chr13:21701710..21701711 [GRCh38]
Chr13:22275849..22275850 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-37dup duplication Symphalangism-brachydactyly syndrome [RCV000296961] Chr13:21671875..21671876 [GRCh38]
Chr13:22246014..22246015 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*435C>T single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000306317] Chr13:21701870 [GRCh38]
Chr13:22276009 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*737G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV000259773] Chr13:21702172 [GRCh38]
Chr13:22276311 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2463dup duplication Symphalangism-brachydactyly syndrome [RCV000261575] Chr13:21703885..21703886 [GRCh38]
Chr13:22278024..22278025 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-585dup duplication Symphalangism-brachydactyly syndrome [RCV000360524] Chr13:21671322..21671323 [GRCh38]
Chr13:22245461..22245462 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*736C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000373144] Chr13:21702171 [GRCh38]
Chr13:22276310 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*274_*279del deletion Symphalangism-brachydactyly syndrome [RCV000333851] Chr13:21701704..21701709 [GRCh38]
Chr13:22275843..22275848 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-116dup duplication Symphalangism-brachydactyly syndrome [RCV000350727] Chr13:21671796..21671797 [GRCh38]
Chr13:22245935..22245936 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1507A>G single nucleotide variant Symphalangism-brachydactyly syndrome [RCV000344255] Chr13:21702942 [GRCh38]
Chr13:22277081 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2363A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000356441] Chr13:21703798 [GRCh38]
Chr13:22277937 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2497del deletion Symphalangism-brachydactyly syndrome [RCV000321530] Chr13:21703931 [GRCh38]
Chr13:22278070 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.*713T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV000332465] Chr13:21702148 [GRCh38]
Chr13:22276287 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2586A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000323632] Chr13:21704021 [GRCh38]
Chr13:22278160 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1903C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000314670] Chr13:21703338 [GRCh38]
Chr13:22277477 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*266GT[5] microsatellite Symphalangism-brachydactyly syndrome [RCV000387473] Chr13:21701700..21701701 [GRCh38]
Chr13:22275839..22275840 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*274_*277del deletion Symphalangism-brachydactyly syndrome [RCV000388210] Chr13:21701706..21701709 [GRCh38]
Chr13:22275845..22275848 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*737G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV000319590] Chr13:21702172 [GRCh38]
Chr13:22276311 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*380C>G single nucleotide variant Multiple synostoses syndrome 3 [RCV000407076] Chr13:21701815 [GRCh38]
Chr13:22275954 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2210del deletion Symphalangism-brachydactyly syndrome [RCV000402546] Chr13:21703636 [GRCh38]
Chr13:22277775 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11(chr13:22278496-23288209)x3 copy number gain See cases [RCV000510371] Chr13:22278496..23288209 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_002010.3(FGF9):c.184A>G (p.Arg62Gly) single nucleotide variant Multiple synostoses syndrome 3 [RCV000513493] Chr13:21672096 [GRCh38]
Chr13:22246235 [GRCh37]
Chr13:13q12.11		 pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 copy number loss not provided [RCV000683564] Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q12.11(chr13:19540031-22849981) copy number loss not provided [RCV000767820] Chr13:19540031..22849981 [GRCh37]
Chr13:13q12.11		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1 copy number loss not provided [RCV000847185] Chr13:20562171..22993375 [GRCh37]
Chr13:13q12.11		 pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
NM_002010.3(FGF9):c.280A>G (p.Ile94Val) single nucleotide variant not provided [RCV000959093] Chr13:21681044 [GRCh38]
Chr13:22255183 [GRCh37]
Chr13:13q12.11		 likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436286-23274540)x1 copy number loss not provided [RCV000846015] Chr13:19436286..23274540 [GRCh37]
Chr13:13q11-12.11		 pathogenic
NM_002010.3(FGF9):c.42G>C (p.Gln14His) single nucleotide variant not provided [RCV000922891] Chr13:21671954 [GRCh38]
Chr13:22246093 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*2594G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001113051] Chr13:21704029 [GRCh38]
Chr13:22278168 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1186A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV001114338] Chr13:21702621 [GRCh38]
Chr13:22276760 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*526A>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001112976] Chr13:21701961 [GRCh38]
Chr13:22276100 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*541C>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001112977] Chr13:21701976 [GRCh38]
Chr13:22276115 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*702G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001112980] Chr13:21702137 [GRCh38]
Chr13:22276276 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2469G>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001113050] Chr13:21703904 [GRCh38]
Chr13:22278043 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2739G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001114436] Chr13:21704174 [GRCh38]
Chr13:22278313 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2356A>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001113049] Chr13:21703791 [GRCh38]
Chr13:22277930 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2782A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV001114437] Chr13:21704217 [GRCh38]
Chr13:22278356 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1225T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001114339] Chr13:21702660 [GRCh38]
Chr13:22276799 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 copy number loss not provided [RCV001006544] Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12		 pathogenic
GRCh37/hg19 13q12.11(chr13:20668070-23029230)x1 copy number loss not provided [RCV001006546] Chr13:20668070..23029230 [GRCh37]
Chr13:13q12.11		 pathogenic
NM_002010.3(FGF9):c.*519C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001112975] Chr13:21701954 [GRCh38]
Chr13:22276093 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*586A>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001112978] Chr13:21702021 [GRCh38]
Chr13:22276160 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*676G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001112979] Chr13:21702111 [GRCh38]
Chr13:22276250 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1030A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV001114337] Chr13:21702465 [GRCh38]
Chr13:22276604 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.420C>T (p.Phe140=) single nucleotide variant Multiple synostoses syndrome 3 [RCV001114253]|not provided [RCV002069842] Chr13:21701228 [GRCh38]
Chr13:22275367 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.*274A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV001110229]|not provided [RCV001720275] Chr13:21701709 [GRCh38]
Chr13:22275848 [GRCh37]
Chr13:13q12.11		 benign|uncertain significance
NM_002010.3(FGF9):c.*1411T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001110321] Chr13:21702846 [GRCh38]
Chr13:22276985 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*1461T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001110322] Chr13:21702896 [GRCh38]
Chr13:22277035 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.2(FGF9):c.-849G>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001110889] Chr13:21671064 [GRCh38]
Chr13:22245203 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2114C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001111062] Chr13:21703549 [GRCh38]
Chr13:22277688 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2291A>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001111065] Chr13:21703726 [GRCh38]
Chr13:22277865 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*37A>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001110227] Chr13:21701472 [GRCh38]
Chr13:22275611 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*278G>A single nucleotide variant Multiple synostoses syndrome 3 [RCV001110230] Chr13:21701713 [GRCh38]
Chr13:22275852 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2276T>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001111064] Chr13:21703711 [GRCh38]
Chr13:22277850 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*121A>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001110228] Chr13:21701556 [GRCh38]
Chr13:22275695 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*1679A>G single nucleotide variant Multiple synostoses syndrome 3 [RCV001110323] Chr13:21703114 [GRCh38]
Chr13:22277253 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-829C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001110890] Chr13:21671084 [GRCh38]
Chr13:22245223 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.-767G>C single nucleotide variant Multiple synostoses syndrome 3 [RCV001110891] Chr13:21671146 [GRCh38]
Chr13:22245285 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.*2256C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001111063] Chr13:21703691 [GRCh38]
Chr13:22277830 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q12.11(chr13:21555059-22772929)x3 copy number gain not provided [RCV001260185] Chr13:21555059..22772929 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_002010.3(FGF9):c.381+17C>T single nucleotide variant Multiple synostoses syndrome 3 [RCV001702118]|not provided [RCV001619934]|not specified [RCV001529146] Chr13:21681162 [GRCh38]
Chr13:22255301 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.382-119T>C single nucleotide variant not provided [RCV001610839] Chr13:21701071 [GRCh38]
Chr13:22275210 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.381+116T>C single nucleotide variant not provided [RCV001679677] Chr13:21681261 [GRCh38]
Chr13:22255400 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.278-276A>G single nucleotide variant not provided [RCV001696067] Chr13:21680766 [GRCh38]
Chr13:22254905 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.382-136T>C single nucleotide variant not provided [RCV001710499] Chr13:21701054 [GRCh38]
Chr13:22275193 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.278-28T>C single nucleotide variant not provided [RCV001716570] Chr13:21681014 [GRCh38]
Chr13:22255153 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.*276GT[18] microsatellite not provided [RCV001721729] Chr13:21701709..21701710 [GRCh38]
Chr13:22275848..22275849 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.382-202A>T single nucleotide variant not provided [RCV001614320] Chr13:21700988 [GRCh38]
Chr13:22275127 [GRCh37]
Chr13:13q12.11		 benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11(chr13:22007337-22543058) copy number gain not specified [RCV002053038] Chr13:22007337..22543058 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.77C>G (p.Pro26Arg) single nucleotide variant not provided [RCV001970901] Chr13:21671989 [GRCh38]
Chr13:22246128 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.465C>T (p.His155=) single nucleotide variant not provided [RCV001900401] Chr13:21701273 [GRCh38]
Chr13:22275412 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.38T>A (p.Val13Glu) single nucleotide variant not provided [RCV002019638] Chr13:21671950 [GRCh38]
Chr13:22246089 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.327C>A (p.Gly109=) single nucleotide variant not provided [RCV002190528] Chr13:21681091 [GRCh38]
Chr13:22255230 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.369G>A (p.Glu123=) single nucleotide variant not provided [RCV002128545] Chr13:21681133 [GRCh38]
Chr13:22255272 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.566C>G (p.Pro189Arg) single nucleotide variant not provided [RCV002225982] Chr13:21701374 [GRCh38]
Chr13:22275513 [GRCh37]
Chr13:13q12.11		 pathogenic
NM_002010.3(FGF9):c.279C>A (p.Gly93=) single nucleotide variant FGF9-related condition [RCV003923537]|not provided [RCV002215536] Chr13:21681043 [GRCh38]
Chr13:22255182 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.117G>A (p.Gln39=) single nucleotide variant not provided [RCV002216232] Chr13:21672029 [GRCh38]
Chr13:22246168 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.423A>G (p.Glu141=) single nucleotide variant not provided [RCV002153827] Chr13:21701231 [GRCh38]
Chr13:22275370 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.159C>T (p.Asp53=) single nucleotide variant not provided [RCV002161982] Chr13:21672071 [GRCh38]
Chr13:22246210 [GRCh37]
Chr13:13q12.11		 benign
NM_002010.3(FGF9):c.468G>A (p.Val156=) single nucleotide variant not provided [RCV002135741] Chr13:21701276 [GRCh38]
Chr13:22275415 [GRCh37]
Chr13:13q12.11		 likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_002010.3(FGF9):c.11T>C (p.Leu4Ser) single nucleotide variant Multiple synostoses syndrome 3 [RCV002471381] Chr13:21671923 [GRCh38]
Chr13:22246062 [GRCh37]
Chr13:13q12.11		 likely pathogenic
GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3 copy number gain not provided [RCV002473574] Chr13:19436287..22405375 [GRCh37]
Chr13:13q11-12.11		 uncertain significance
NM_002010.3(FGF9):c.356A>G (p.Asn119Ser) single nucleotide variant Inborn genetic diseases [RCV002905236] Chr13:21681120 [GRCh38]
Chr13:22255259 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.278-13C>T single nucleotide variant not provided [RCV002617177] Chr13:21681029 [GRCh38]
Chr13:22255168 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.394C>G (p.Gln132Glu) single nucleotide variant not provided [RCV002617632] Chr13:21701202 [GRCh38]
Chr13:22275341 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.363G>A (p.Lys121=) single nucleotide variant not provided [RCV003055164] Chr13:21681127 [GRCh38]
Chr13:22255266 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.446_447inv (p.Ser149Leu) inversion not provided [RCV003040771] Chr13:21701254..21701255 [GRCh38]
Chr13:22275393..22275394 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.383A>G (p.Glu128Gly) single nucleotide variant not provided [RCV002791153] Chr13:21701191 [GRCh38]
Chr13:22275330 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.399G>A (p.Glu133=) single nucleotide variant not provided [RCV002596726] Chr13:21701207 [GRCh38]
Chr13:22275346 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.96_98del (p.Leu33del) deletion not provided [RCV002600325] Chr13:21672006..21672008 [GRCh38]
Chr13:22246145..22246147 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.54G>A (p.Pro18=) single nucleotide variant not provided [RCV002585300] Chr13:21671966 [GRCh38]
Chr13:22246105 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.516G>A (p.Pro172=) single nucleotide variant not provided [RCV002584847] Chr13:21701324 [GRCh38]
Chr13:22275463 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.430T>C (p.Trp144Arg) single nucleotide variant Multiple synostoses syndrome 3 [RCV003223356] Chr13:21701238 [GRCh38]
Chr13:22275377 [GRCh37]
Chr13:13q12.11		 likely pathogenic
NC_000013.10:g.(?_22246052)_(22246348_?)dup duplication not provided [RCV003107576] Chr13:22246052..22246348 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.528T>C (p.Thr176=) single nucleotide variant not provided [RCV002609852] Chr13:21701336 [GRCh38]
Chr13:22275475 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.522A>G (p.Glu174=) single nucleotide variant not provided [RCV002611360] Chr13:21701330 [GRCh38]
Chr13:22275469 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.190A>G (p.Arg64Gly) single nucleotide variant not provided [RCV003237034] Chr13:21672102 [GRCh38]
Chr13:22246241 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.514C>T (p.Pro172Ser) single nucleotide variant Inborn genetic diseases [RCV003253115] Chr13:21701322 [GRCh38]
Chr13:22275461 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.58G>C (p.Gly20Arg) single nucleotide variant not provided [RCV003576373] Chr13:21671970 [GRCh38]
Chr13:22246109 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.531G>A (p.Arg177=) single nucleotide variant not provided [RCV003576389] Chr13:21701339 [GRCh38]
Chr13:22275478 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.104A>G (p.Asp35Gly) single nucleotide variant not provided [RCV003577318] Chr13:21672016 [GRCh38]
Chr13:22246155 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.277+19C>T single nucleotide variant not provided [RCV003816760] Chr13:21672208 [GRCh38]
Chr13:22246347 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.440C>T (p.Thr147Met) single nucleotide variant not provided [RCV003702026] Chr13:21701248 [GRCh38]
Chr13:22275387 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.348C>T (p.Leu116=) single nucleotide variant not provided [RCV003837836] Chr13:21681112 [GRCh38]
Chr13:22255251 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.90G>A (p.Pro30=) single nucleotide variant not provided [RCV003811940] Chr13:21672002 [GRCh38]
Chr13:22246141 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.33C>T (p.Phe11=) single nucleotide variant not provided [RCV003820985] Chr13:21671945 [GRCh38]
Chr13:22246084 [GRCh37]
Chr13:13q12.11		 likely benign
NM_002010.3(FGF9):c.583G>A (p.Asp195Asn) single nucleotide variant not provided [RCV003729419] Chr13:21701391 [GRCh38]
Chr13:22275530 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.277+5G>A single nucleotide variant not provided [RCV003706276] Chr13:21672194 [GRCh38]
Chr13:22246333 [GRCh37]
Chr13:13q12.11		 uncertain significance
NM_002010.3(FGF9):c.421G>C (p.Glu141Gln) single nucleotide variant not provided [RCV003555784] Chr13:21701229 [GRCh38]
Chr13:22275368 [GRCh37]
Chr13:13q12.11		 uncertain significance
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 copy number gain not provided [RCV004442747] Chr13:19436287..36278224 [GRCh37]
Chr13:13q11-13.3		 uncertain significance
NM_002010.3(FGF9):c.88C>T (p.Pro30Ser) single nucleotide variant Inborn genetic diseases [RCV004394096] Chr13:21672000 [GRCh38]
Chr13:22246139 [GRCh37]
Chr13:13q12.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR140hsa-miR-140-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23401231

Predicted Target Of
Summary Value
Count of predictions:1167
Count of miRNA genes:796
Interacting mature miRNAs:911
Transcripts:ENST00000382353, ENST00000461657, ENST00000478546
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-D14838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,275,917 - 22,276,112UniSTSGRCh37
Build 361321,173,917 - 21,174,112RGDNCBI36
Celera133,338,314 - 3,338,509RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,077,533 - 3,077,728UniSTS
GeneMap99-GB4 RH Map1348.89UniSTS
NCBI RH Map1311.2UniSTS
G43600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,276,582 - 22,276,706UniSTSGRCh37
Build 361321,174,582 - 21,174,706RGDNCBI36
Celera133,338,979 - 3,339,103RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,078,198 - 3,078,322UniSTS
D13S143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,274,085 - 22,274,213UniSTSGRCh37
GRCh371322,269,167 - 22,269,300UniSTSGRCh37
Build 361321,172,085 - 21,172,213RGDNCBI36
Celera133,331,562 - 3,331,697UniSTS
Celera133,336,484 - 3,336,610RGD
HuRef133,070,787 - 3,070,922UniSTS
HuRef133,075,709 - 3,075,833UniSTS
RH48943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,276,511 - 22,276,649UniSTSGRCh37
Build 361321,174,511 - 21,174,649RGDNCBI36
Celera133,338,908 - 3,339,046RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,078,127 - 3,078,265UniSTS
GeneMap99-GB4 RH Map1351.42UniSTS
NCBI RH Map1310.0UniSTS
UniSTS:258275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,246,052 - 22,246,244UniSTSGRCh37
Build 361321,144,052 - 21,144,244RGDNCBI36
Celera133,308,446 - 3,308,638RGD
HuRef133,047,672 - 3,047,864UniSTS
FGF9_1657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,275,550 - 22,276,351UniSTSGRCh37
Build 361321,173,550 - 21,174,351RGDNCBI36
Celera133,337,947 - 3,338,748RGD
HuRef133,077,170 - 3,077,967UniSTS
RH78332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,275,980 - 22,276,114UniSTSGRCh37
Build 361321,173,980 - 21,174,114RGDNCBI36
Celera133,338,377 - 3,338,511RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,077,596 - 3,077,730UniSTS
GeneMap99-GB4 RH Map1348.89UniSTS
NCBI RH Map1311.2UniSTS
D13S1821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,275,823 - 22,276,113UniSTSGRCh37
Build 361321,173,823 - 21,174,113RGDNCBI36
Celera133,338,220 - 3,338,510RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,077,443 - 3,077,729UniSTS
STS-H24274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371322,275,873 - 22,276,115UniSTSGRCh37
Build 361321,173,873 - 21,174,115RGDNCBI36
Celera133,338,270 - 3,338,512RGD
Cytogenetic Map13q11-q12UniSTS
HuRef133,077,489 - 3,077,731UniSTS
GeneMap99-GB4 RH Map1347.91UniSTS
NCBI RH Map13127.2UniSTS
D13S143  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q11-q12UniSTS
D13S143  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q11-q12UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 22 8 39 1 14 1 3 7 504 103 70 51 90
Low 1737 1284 762 98 342 18 1527 1415 2774 159 994 888 82 657 1121 1
Below cutoff 647 1548 734 344 1147 264 2702 747 395 72 322 592 85 1 448 1649 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382353   ⟹   ENSP00000371790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1321,671,073 - 21,704,498 (+)Ensembl
RefSeq Acc Id: ENST00000461657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1321,674,002 - 21,701,298 (+)Ensembl
RefSeq Acc Id: ENST00000478546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1321,681,113 - 21,701,832 (+)Ensembl
RefSeq Acc Id: NM_002010   ⟹   NP_002001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381321,671,073 - 21,704,498 (+)NCBI
GRCh371322,245,215 - 22,278,640 (+)ENTREZGENE
Build 361321,143,875 - 21,174,187 (+)NCBI Archive
HuRef133,046,835 - 3,080,256 (+)ENTREZGENE
CHM1_11322,213,000 - 22,246,423 (+)NCBI
T2T-CHM13v2.01320,865,413 - 20,898,835 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011534996   ⟹   XP_011533298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381321,674,558 - 21,704,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054374221   ⟹   XP_054230196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01320,868,898 - 20,898,835 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_002001   ⟸   NM_002010
- Peptide Label: precursor
- UniProtKB: A8K427 (UniProtKB/Swiss-Prot),   Q3SY32 (UniProtKB/Swiss-Prot),   P31371 (UniProtKB/Swiss-Prot),   A0A7U3L6D0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533298   ⟸   XM_011534996
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000371790   ⟸   ENST00000382353
RefSeq Acc Id: XP_054230196   ⟸   XM_054374221
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31371-F1-model_v2 AlphaFold P31371 1-208 view protein structure

Promoters
RGD ID:6790874
Promoter ID:HG_KWN:17248
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002010
Position:
Human AssemblyChrPosition (strand)Source
Build 361321,142,376 - 21,143,302 (+)MPROMDB
RGD ID:6790875
Promoter ID:HG_KWN:17249
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000046003
Position:
Human AssemblyChrPosition (strand)Source
Build 361321,145,891 - 21,146,547 (+)MPROMDB
RGD ID:6810491
Promoter ID:HG_ACW:20101
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:FGF9.EAPR07-UNSPLICED,   FGF9.FAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361321,147,176 - 21,147,676 (+)MPROMDB
RGD ID:7226005
Promoter ID:EPDNEW_H18748
Type:initiation region
Name:FGF9_1
Description:fibroblast growth factor 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381321,671,076 - 21,671,136EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3687 AgrOrtholog
COSMIC FGF9 COSMIC
Ensembl Genes ENSG00000102678 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382353 ENTREZGENE
  ENST00000382353.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102678 GTEx
HGNC ID HGNC:3687 ENTREZGENE
Human Proteome Map FGF9 Human Proteome Map
InterPro Fibroblast_GF_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL1/FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2254 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2254 ENTREZGENE
OMIM 600921 OMIM
PANTHER PTHR11486 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11486:SF28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB FGF9 RGD, PharmGKB
PRINTS HBGFFGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IL1HBGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HBGF_FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7U3L6D0 ENTREZGENE, UniProtKB/TrEMBL
  A8K427 ENTREZGENE
  FGF9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3SY32 ENTREZGENE
UniProt Secondary A8K427 UniProtKB/Swiss-Prot
  Q3SY32 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-30 FGF9  fibroblast growth factor 9  FGF9  fibroblast growth factor 9 (glia-activating factor)  Symbol and/or name change 5135510 APPROVED