FGF3 (fibroblast growth factor 3)

Gene: FGF3 (fibroblast growth factor 3) Homo sapiens

Analyze

Symbol:

FGF3

Name:

fibroblast growth factor 3

RGD ID:

1346722

HGNC Page

HGNC:3681

Description:

Predicted to enable fibroblast growth factor receptor binding activity and growth factor activity. Involved in negative regulation of cardiac muscle tissue development. Acts upstream of or within fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and extracellular space.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FGF-3; fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog); HBGF-3; heparin-binding growth factor 3; INT-2 proto-oncogene protein; INT2; murine mammary tumor virus integration site 2, mouse; oncogene INT2; proto-oncogene Int-2; V-INT2 murine mammary tumor virus integration site oncogene homolog

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Fgf3 (fibroblast growth factor 3)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Rattus norvegicus (Norway rat):	Fgf3 (fibroblast growth factor 3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Fgf3 (fibroblast growth factor 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	FGF3 (fibroblast growth factor 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	FGF3 (fibroblast growth factor 3)	HGNC	NCBI
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Fgf3 (fibroblast growth factor 3)	NCBI	Ortholog
Sus scrofa (pig):	FGF3 (fibroblast growth factor 3)	HGNC	Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	FGF3 (fibroblast growth factor 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Fgf3 (fibroblast growth factor 3)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Skor1 (SKI family transcriptional corepressor 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Fgf3 (fibroblast growth factor 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Fgf3 (fibroblast growth factor 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	fgf3 (fibroblast growth factor 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	bnl	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	let-756	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	fgf3.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	fgf3.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	fgf3	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	69,809,968 - 69,819,416 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	69,809,968 - 69,819,416 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	69,624,736 - 69,634,184 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	69,333,917 - 69,343,129 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	69,333,916 - 69,343,129	NCBI
Celera	11	66,921,757 - 66,931,244 (-)	NCBI		Celera
Cytogenetic Map	11	q13.3	NCBI
HuRef	11	65,917,066 - 65,926,354 (-)	NCBI		HuRef
CHM1_1	11	69,507,656 - 69,517,018 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	69,826,890 - 69,836,324 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Otitis Media (ISO)

Aicardi-Goutieres Syndrome 3 (IAGP)

Breast Neoplasms (EXP)

cleft lip (EXP)

cleft palate (EXP)

Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia (EXP,IAGP)

Craniofacial Abnormalities (EXP)

genetic disease (IAGP)

hepatocellular carcinoma (EXP)

intellectual disability (IAGP)

Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations (IAGP)

sensorineural hearing loss (EXP)

Stomatognathic Diseases (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-taxifolin (EXP)

17beta-estradiol (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

all-trans-retinoic acid (ISO)

ammonium chloride (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

CGP 52608 (EXP)

diclofenac (ISO)

fenvalerate (ISO)

heparin (ISO)

methotrexate (ISO)

PCB138 (ISO)

potassium dichromate (ISO)

sodium arsenite (EXP)

triptonide (ISO)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

anatomical structure morphogenesis (TAS)

animal organ morphogenesis (IBA,IEA)

cell differentiation (IBA,IEA)

cell-cell signaling (TAS)

fibroblast growth factor receptor signaling pathway (IBA,IEA,IGI)

negative regulation of cardiac muscle tissue development (IMP)

organ induction (ISO)

otic vesicle formation (ISO)

positive regulation of cell division (IEA)

positive regulation of cell population proliferation (IBA,IEA,IGI)

positive regulation of gene expression (IBA,IEA)

positive regulation of MAPK cascade (IBA)

positive regulation of protein phosphorylation (IBA,IEA)

post-anal tail morphogenesis (ISO)

regulation of cell migration (IBA,IEA)

semicircular canal morphogenesis (ISO)

signal transduction (TAS)

thymus development (ISO)

Cellular Component

cytoplasm (IBA,IEA)

extracellular region (IEA,TAS)

extracellular space (IBA,IEA)

Golgi apparatus (ISO)

Molecular Function

fibroblast growth factor receptor binding (IBA,IEA)

growth factor activity (IBA,IEA,TAS)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

melanoma pathway (IEA)

mitogen activated protein kinase signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal cranial nerve morphology (IAGP)

Abnormal dental enamel morphology (IAGP)

Abnormal dental pulp morphology (IAGP)

Abnormal maxilla morphology (IAGP)

Abnormal molar morphology (IAGP)

Abnormality of canine (IAGP)

Agenesis of premolar (IAGP)

Anteverted ears (IAGP)

Anteverted nares (IAGP)

Aplasia of the inner ear (IAGP)

Autosomal recessive inheritance (IAGP)

Carious teeth (IAGP)

Cataract (IAGP)

Congenital onset (IAGP)

Conical tooth (IAGP)

Delayed eruption of teeth (IAGP)

Delayed gross motor development (IAGP)

Downslanted palpebral fissures (IAGP)

Full cheeks (IAGP)

Gingival overgrowth (IAGP)

Hearing impairment (IAGP)

High hypermetropia (IAGP)

High-frequency sensorineural hearing impairment (IAGP)

Hypertelorism (IAGP)

Hypodontia (IAGP)

Intellectual disability (IAGP)

Iris coloboma (IAGP)

Jugular foramen stenosis (IAGP)

Lens coloboma (IAGP)

Long face (IAGP)

Long philtrum (IAGP)

Microcornea (IAGP)

Microdontia (IAGP)

Micrognathia (IAGP)

Microphthalmia (IAGP)

Microtia (IAGP)

Microtia, first degree (IAGP)

Odontoma (IAGP)

Otitis media with effusion (IAGP)

Peg-shaped maxillary lateral incisors (IAGP)

Periodontitis (IAGP)

Pointed chin (IAGP)

Profound sensorineural hearing impairment (IAGP)

Progressive sensorineural hearing impairment (IAGP)

Prominent nose (IAGP)

Pulp calcification (IAGP)

Retinal coloboma (IAGP)

Sensorineural hearing impairment (IAGP)

Skin tags (IAGP)

Strabismus (IAGP)

Supernumerary tooth (IAGP)

Synophrys (IAGP)

Tall stature (IAGP)

Taurodontia (IAGP)

Underdeveloped nasal alae (IAGP)

Wide nasal bridge (IAGP)

Widely spaced teeth (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7.	Tissue remodeling in the acute otitis media mouse model.	Sautter NB, etal., Int J Pediatr Otorhinolaryngol. 2011 Nov;75(11):1368-71. doi: 10.1016/j.ijporl.2011.07.026. Epub 2011 Sep 1.

Additional References at PubMed

PMID:1922362	PMID:2470007	PMID:3023852	PMID:8223243	PMID:8622701	PMID:8663044	PMID:10579907	PMID:10749884	PMID:11294897	PMID:11353842	PMID:11438656	PMID:12477932
PMID:15199049	PMID:15489334	PMID:16263090	PMID:16597617	PMID:17133345	PMID:17236138	PMID:17360555	PMID:17656375	PMID:18199118	PMID:18435799	PMID:18464913	PMID:18562274
PMID:18701883	PMID:19453261	PMID:19923290	PMID:19950373	PMID:20018768	PMID:20453838	PMID:20702560	PMID:21306635	PMID:21359960	PMID:21480479	PMID:21873635	PMID:22993869
PMID:23169889	PMID:23443559	PMID:24120895	PMID:24661680	PMID:24697712	PMID:24920722	PMID:25333703	PMID:26421711	PMID:28249712	PMID:28381415	PMID:28514442	PMID:29272002
PMID:31336982	PMID:31574782	PMID:32694731	PMID:32723837	PMID:33961781

Genomics

Comparative Map Data

FGF3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	69,809,968 - 69,819,416 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	69,809,968 - 69,819,416 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	69,624,736 - 69,634,184 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	69,333,917 - 69,343,129 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	69,333,916 - 69,343,129	NCBI
Celera	11	66,921,757 - 66,931,244 (-)	NCBI		Celera
Cytogenetic Map	11	q13.3	NCBI
HuRef	11	65,917,066 - 65,926,354 (-)	NCBI		HuRef
CHM1_1	11	69,507,656 - 69,517,018 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	69,826,890 - 69,836,324 (-)	NCBI		T2T-CHM13v2.0

Fgf3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	144,392,349 - 144,397,085 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	144,391,820 - 144,398,173 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	144,838,612 - 144,843,348 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	144,838,083 - 144,844,436 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	152,024,517 - 152,029,253 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	144,648,098 - 144,652,378 (+)	NCBI		MGSCv36	mm8
Celera	7	144,602,541 - 144,607,277 (+)	NCBI		Celera
Cytogenetic Map	7	F5	NCBI
cM Map	7	88.85	NCBI

Fgf3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	209,430,457 - 209,434,832 (+)	NCBI		GRCr8
mRatBN7.2	1	200,001,162 - 200,005,539 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	200,001,261 - 200,005,187 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	208,384,758 - 208,388,679 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	215,468,695 - 215,472,617 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	208,142,888 - 208,146,810 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	218,003,018 - 218,006,942 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	218,003,018 - 218,006,942 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	224,872,403 - 224,876,327 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	205,269,480 - 205,273,404 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	205,422,932 - 205,426,857 (+)	NCBI
Celera	1	197,559,343 - 197,563,267 (+)	NCBI		Celera
Cytogenetic Map	1	q42	NCBI

Fgf3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955422	16,333,363 - 16,339,853 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955422	16,333,363 - 16,339,853 (+)	NCBI	ChiLan1.0	ChiLan1.0

FGF3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	70,775,476 - 70,785,000 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	71,818,641 - 71,828,121 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	64,905,658 - 64,915,175 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	68,197,962 - 68,207,036 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	68,197,962 - 68,207,042 (-)	Ensembl	panpan1.1		panPan2

FGF3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	18	48,382,819 - 48,388,453 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	18	48,383,222 - 48,389,009 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	18	46,990,863 - 46,998,466 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	18	49,057,796 - 49,065,400 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	18	49,057,796 - 49,065,400 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	18	48,504,675 - 48,512,248 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	18	48,091,070 - 48,098,649 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	18	48,836,772 - 48,844,382 (+)	NCBI		UU_Cfam_GSD_1.0

Fgf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	4,426,011 - 4,433,296 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936599	868,634 - 875,464 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936599	868,634 - 875,464 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FGF3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	3,489,009 - 3,497,533 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	3,489,208 - 3,496,532 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	1,966,360 - 1,973,649 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FGF3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	4,746,195 - 4,755,654 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	4,746,696 - 4,754,924 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	102,019,934 - 102,028,917 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fgf3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624767	17,353,989 - 17,360,705 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624767	17,353,989 - 17,360,857 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in FGF3
96 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005247.4(FGF3):c.150C>A (p.Cys50Ter)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000031938]	Chr11:69818784 [GRCh38] Chr11:69633552 [GRCh37] Chr11:11q13.3	pathogenic\|not provided
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000031939]\|FGF3-related condition [RCV003982855]\|not provided [RCV000485154]	Chr11:69816361 [GRCh38] Chr11:69631129 [GRCh37] Chr11:11q13.3	pathogenic\|likely pathogenic\|not provided
NM_005247.4(FGF3):c.394del (p.Arg132fs)	deletion	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000031940]	Chr11:69810631 [GRCh38] Chr11:69625399 [GRCh37] Chr11:11q13.3	pathogenic\|not provided
NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000022692]\|not provided [RCV001851999]	Chr11:69818788 [GRCh38] Chr11:69633556 [GRCh37] Chr11:11q13.3	pathogenic\|uncertain significance
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000022693]	Chr11:69816327 [GRCh38] Chr11:69631095 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.457_458del (p.Trp153fs)	microsatellite	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000022694]	Chr11:69810567..69810568 [GRCh38] Chr11:69625335..69625336 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.466T>C (p.Ser156Pro)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014849]	Chr11:69810559 [GRCh38] Chr11:69625327 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014850]\|FGF3-related condition [RCV003398511]\|not provided [RCV003441717]	Chr11:69816334 [GRCh38] Chr11:69631102 [GRCh37] Chr11:11q13.3	pathogenic\|likely pathogenic
NM_005247.4(FGF3):c.616del (p.Val206fs)	deletion	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014851]	Chr11:69810409 [GRCh38] Chr11:69625177 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014852]	Chr11:69818738 [GRCh38] Chr11:69633506 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.17T>C (p.Leu6Pro)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014853]	Chr11:69818917 [GRCh38] Chr11:69633685 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.255del (p.Ile85fs)	deletion	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000014854]	Chr11:69816389 [GRCh38] Chr11:69631157 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.2(FGF3):c.346G>A (p.Glu116Lys)	single nucleotide variant	Malignant melanoma [RCV000069657]	Chr11:69810679 [GRCh38] Chr11:69625447 [GRCh37] Chr11:69334628 [NCBI36] Chr11:11q13.3	not provided
NM_005247.4(FGF3):c.523T>A (p.Ser175Thr)	single nucleotide variant	not provided [RCV001963896]	Chr11:69810502 [GRCh38] Chr11:69625270 [GRCh37] Chr11:11q13.3	uncertain significance
GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	copy number loss	See cases [RCV000142138]	Chr11:68031693..71593495 [GRCh38] Chr11:67799160..71304541 [GRCh37] Chr11:67555736..70982189 [NCBI36] Chr11:11q13.2-13.4	likely pathogenic
NM_005247.4(FGF3):c.420G>A (p.Thr140=)	single nucleotide variant	not provided [RCV003765528]\|not specified [RCV000248486]	Chr11:69810605 [GRCh38] Chr11:69625373 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.69G>T (p.Ala23=)	single nucleotide variant	not provided [RCV001636787]\|not specified [RCV000253475]	Chr11:69818865 [GRCh38] Chr11:69633633 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.408G>A (p.Thr136=)	single nucleotide variant	not provided [RCV001660283]\|not specified [RCV000243932]	Chr11:69810617 [GRCh38] Chr11:69625385 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.325-5C>T	single nucleotide variant	not provided [RCV000991978]\|not specified [RCV000251941]	Chr11:69810705 [GRCh38] Chr11:69625473 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.57G>A (p.Ala19=)	single nucleotide variant	not provided [RCV001571405]	Chr11:69818877 [GRCh38] Chr11:69633645 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.100G>T (p.Gly34Cys)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000763765]\|not provided [RCV000489136]	Chr11:69818834 [GRCh38] Chr11:69633602 [GRCh37] Chr11:11q13.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005247.4(FGF3):c.280G>A (p.Gly94Arg)	single nucleotide variant	not provided [RCV000732331]\|not specified [RCV003479210]	Chr11:69816364 [GRCh38] Chr11:69631132 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)	single nucleotide variant	not provided [RCV000732848]	Chr11:69810400 [GRCh38] Chr11:69625168 [GRCh37] Chr11:11q13.3	likely pathogenic
GRCh37/hg19 11q13.3(chr11:69582976-69660482)x1	copy number loss	See cases [RCV000446615]	Chr11:69582976..69660482 [GRCh37] Chr11:11q13.3	likely benign
GRCh37/hg19 11q13.3(chr11:68686958-69803426)x3	copy number gain	See cases [RCV000448627]	Chr11:68686958..69803426 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.270dup (p.Leu91fs)	duplication	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000477891]	Chr11:69816373..69816374 [GRCh38] Chr11:69631141..69631142 [GRCh37] Chr11:11q13.3	pathogenic
GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	copy number loss	See cases [RCV000510219]	Chr11:67799160..70701268 [GRCh37] Chr11:11q13.2-13.4	likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_005247.4(FGF3):c.-63C>T	single nucleotide variant	not provided [RCV001566815]	Chr11:69818996 [GRCh38] Chr11:69633764 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.279C>T (p.Ser93=)	single nucleotide variant	not provided [RCV001564112]	Chr11:69816365 [GRCh38] Chr11:69631133 [GRCh37] Chr11:11q13.3	benign\|likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_005247.4(FGF3):c.220+172G>T	single nucleotide variant	not provided [RCV001611317]	Chr11:69818542 [GRCh38] Chr11:69633310 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.324+281C>T	single nucleotide variant	not provided [RCV001576435]	Chr11:69816039 [GRCh38] Chr11:69630807 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.648C>T (p.Ser216=)	single nucleotide variant	not provided [RCV000903440]	Chr11:69810377 [GRCh38] Chr11:69625145 [GRCh37] Chr11:11q13.3	benign\|likely benign
NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV000770820]	Chr11:69810563 [GRCh38] Chr11:69625331 [GRCh37] Chr11:11q13.3	likely pathogenic
NM_005247.4(FGF3):c.462C>T (p.Tyr154=)	single nucleotide variant	not provided [RCV000979344]	Chr11:69810563 [GRCh38] Chr11:69625331 [GRCh37] Chr11:11q13.3	likely benign
GRCh37/hg19 11q13.3(chr11:69540125-69711472)x3	copy number gain	not provided [RCV000847708]	Chr11:69540125..69711472 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.346G>C (p.Glu116Gln)	single nucleotide variant	Inborn genetic diseases [RCV003292572]	Chr11:69810679 [GRCh38] Chr11:69625447 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.154A>G (p.Thr52Ala)	single nucleotide variant	not provided [RCV003126973]	Chr11:69818780 [GRCh38] Chr11:69633548 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.311G>C (p.Arg104Pro)	single nucleotide variant	not provided [RCV003127116]	Chr11:69816333 [GRCh38] Chr11:69631101 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.*260G>A	single nucleotide variant	not provided [RCV001575509]	Chr11:69810045 [GRCh38] Chr11:69624813 [GRCh37] Chr11:11q13.3	likely benign
NC_000011.9:g.(?_64973914)_(70052579_?)dup	duplication	Aicardi-Goutieres syndrome 3 [RCV003113322]\|FADD-related immunodeficiency [RCV003107753]	Chr11:64973914..70052579 [GRCh37] Chr11:11q13.1-13.3	uncertain significance
NM_005247.4(FGF3):c.310dup (p.Arg104fs)	duplication	not provided [RCV001723358]	Chr11:69816333..69816334 [GRCh38] Chr11:69631101..69631102 [GRCh37] Chr11:11q13.3	pathogenic\|likely pathogenic
NM_005247.4(FGF3):c.325-186A>G	single nucleotide variant	not provided [RCV001557436]	Chr11:69810886 [GRCh38] Chr11:69625654 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.78G>A (p.Arg26=)	single nucleotide variant	not provided [RCV001592323]	Chr11:69818856 [GRCh38] Chr11:69633624 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.625C>A (p.Arg209=)	single nucleotide variant	not provided [RCV000910066]	Chr11:69810400 [GRCh38] Chr11:69625168 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.629G>A (p.Arg210Gln)	single nucleotide variant	not provided [RCV000906162]	Chr11:69810396 [GRCh38] Chr11:69625164 [GRCh37] Chr11:11q13.3	benign\|likely benign
NM_005247.4(FGF3):c.303G>C (p.Lys101Asn)	single nucleotide variant	not provided [RCV000956977]	Chr11:69816341 [GRCh38] Chr11:69631109 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.221-106C>T	single nucleotide variant	not provided [RCV001561716]	Chr11:69816529 [GRCh38] Chr11:69631297 [GRCh37] Chr11:11q13.3	likely benign
NC_000011.10:g.69819665A>G	single nucleotide variant	not provided [RCV001620896]	Chr11:69819665 [GRCh38] Chr11:69634433 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.325-203A>T	single nucleotide variant	not provided [RCV001594158]	Chr11:69810903 [GRCh38] Chr11:69625671 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.221-249G>A	single nucleotide variant	not provided [RCV001550794]	Chr11:69816672 [GRCh38] Chr11:69631440 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.324+110C>T	single nucleotide variant	not provided [RCV001698862]	Chr11:69816210 [GRCh38] Chr11:69630978 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.324+115C>T	single nucleotide variant	not provided [RCV001715252]	Chr11:69816205 [GRCh38] Chr11:69630973 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.325-262C>T	single nucleotide variant	not provided [RCV001656773]	Chr11:69810962 [GRCh38] Chr11:69625730 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.324+15T>C	single nucleotide variant	not provided [RCV001567657]	Chr11:69816305 [GRCh38] Chr11:69631073 [GRCh37] Chr11:11q13.3	benign\|likely benign
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV002051935]\|not provided [RCV001291550]	Chr11:69818768 [GRCh38] Chr11:69633536 [GRCh37] Chr11:11q13.3	likely pathogenic\|conflicting interpretations of pathogenicity
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
NM_005247.4(FGF3):c.325-43A>G	single nucleotide variant	not provided [RCV001538294]	Chr11:69810743 [GRCh38] Chr11:69625511 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.-331G>T	single nucleotide variant	not provided [RCV001588691]	Chr11:69819264 [GRCh38] Chr11:69634032 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.-124G>T	single nucleotide variant	not provided [RCV001616063]	Chr11:69819057 [GRCh38] Chr11:69633825 [GRCh37] Chr11:11q13.3	benign
NC_000011.10:g.69819659G>A	single nucleotide variant	not provided [RCV001617004]	Chr11:69819659 [GRCh38] Chr11:69634427 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.659T>G (p.Leu220Arg)	single nucleotide variant	not provided [RCV001756275]	Chr11:69810366 [GRCh38] Chr11:69625134 [GRCh37] Chr11:11q13.3	uncertain significance
GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	copy number loss	not provided [RCV001834393]	Chr11:69214835..70821137 [GRCh37] Chr11:11q13.3-13.4	pathogenic
NM_005247.4(FGF3):c.509G>A (p.Arg170His)	single nucleotide variant	not specified [RCV002247835]	Chr11:69810516 [GRCh38] Chr11:69625284 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.377A>C (p.Tyr126Ser)	single nucleotide variant	not provided [RCV001758371]	Chr11:69810648 [GRCh38] Chr11:69625416 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.76C>A (p.Arg26=)	single nucleotide variant	not provided [RCV001773217]	Chr11:69818858 [GRCh38] Chr11:69633626 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.404G>A (p.Arg135Gln)	single nucleotide variant	not provided [RCV001985977]	Chr11:69810621 [GRCh38] Chr11:69625389 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.673G>A (p.Val225Ile)	single nucleotide variant	not provided [RCV001987019]	Chr11:69810352 [GRCh38] Chr11:69625120 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.407C>T (p.Thr136Met)	single nucleotide variant	not provided [RCV002042569]	Chr11:69810618 [GRCh38] Chr11:69625386 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.570G>A (p.Met190Ile)	single nucleotide variant	Inborn genetic diseases [RCV002561379]\|not provided [RCV001933598]	Chr11:69810455 [GRCh38] Chr11:69625223 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.348G>T (p.Glu116Asp)	single nucleotide variant	not provided [RCV001902515]	Chr11:69810677 [GRCh38] Chr11:69625445 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.221G>A (p.Ser74Asn)	single nucleotide variant	not provided [RCV002050942]	Chr11:69816423 [GRCh38] Chr11:69631191 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.463G>A (p.Val155Met)	single nucleotide variant	not provided [RCV001972912]	Chr11:69810562 [GRCh38] Chr11:69625330 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.386A>G (p.Tyr129Cys)	single nucleotide variant	not provided [RCV001957560]	Chr11:69810639 [GRCh38] Chr11:69625407 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.316T>G (p.Tyr106Asp)	single nucleotide variant	not provided [RCV002036650]	Chr11:69816328 [GRCh38] Chr11:69631096 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.324+11G>A	single nucleotide variant	not provided [RCV002078954]	Chr11:69816309 [GRCh38] Chr11:69631077 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.339C>T (p.Ala113=)	single nucleotide variant	not provided [RCV002149936]	Chr11:69810686 [GRCh38] Chr11:69625454 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.431del (p.Arg144fs)	deletion	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV002222962]	Chr11:69810594 [GRCh38] Chr11:69625362 [GRCh37] Chr11:11q13.3	likely pathogenic
NM_005247.4(FGF3):c.325-19T>C	single nucleotide variant	not provided [RCV002120635]	Chr11:69810719 [GRCh38] Chr11:69625487 [GRCh37] Chr11:11q13.3	benign
NM_005247.4(FGF3):c.45del (p.Trp16fs)	deletion	not provided [RCV003110106]	Chr11:69818889 [GRCh38] Chr11:69633657 [GRCh37] Chr11:11q13.3	likely pathogenic
NM_005247.4(FGF3):c.173T>C (p.Leu58Pro)	single nucleotide variant	not provided [RCV003112220]	Chr11:69818761 [GRCh38] Chr11:69633529 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.269G>T (p.Gly90Val)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV003336518]\|not provided [RCV002283288]	Chr11:69816375 [GRCh38] Chr11:69631143 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.475G>A (p.Gly159Ser)	single nucleotide variant	not provided [RCV003236074]	Chr11:69810550 [GRCh38] Chr11:69625318 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.71G>A (p.Arg24Gln)	single nucleotide variant	not provided [RCV002274579]	Chr11:69818863 [GRCh38] Chr11:69633631 [GRCh37] Chr11:11q13.3	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_005247.4(FGF3):c.325-2A>G	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV002472105]	Chr11:69810702 [GRCh38] Chr11:69625470 [GRCh37] Chr11:11q13.3	uncertain significance
GRCh37/hg19 11q13.3(chr11:69559588-70347818)x3	copy number gain	not provided [RCV002474882]	Chr11:69559588..70347818 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.221-1G>C	single nucleotide variant	not provided [RCV002839342]	Chr11:69816424 [GRCh38] Chr11:69631192 [GRCh37] Chr11:11q13.3	likely pathogenic
NM_005247.4(FGF3):c.512G>A (p.Arg171His)	single nucleotide variant	not provided [RCV002972570]	Chr11:69810513 [GRCh38] Chr11:69625281 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.411G>A (p.Val137=)	single nucleotide variant	not provided [RCV003033096]	Chr11:69810614 [GRCh38] Chr11:69625382 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.691G>A (p.Gly231Ser)	single nucleotide variant	Inborn genetic diseases [RCV002845463]	Chr11:69810334 [GRCh38] Chr11:69625102 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.507C>G (p.Thr169=)	single nucleotide variant	not provided [RCV002639180]	Chr11:69810518 [GRCh38] Chr11:69625286 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.635G>A (p.Arg212Gln)	single nucleotide variant	Inborn genetic diseases [RCV002707304]	Chr11:69810390 [GRCh38] Chr11:69625158 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.23T>C (p.Leu8Pro)	single nucleotide variant	not provided [RCV002847348]	Chr11:69818911 [GRCh38] Chr11:69633679 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.43G>A (p.Gly15Ser)	single nucleotide variant	not provided [RCV002952720]	Chr11:69818891 [GRCh38] Chr11:69633659 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.448G>A (p.Glu150Lys)	single nucleotide variant	Inborn genetic diseases [RCV002787439]	Chr11:69810577 [GRCh38] Chr11:69625345 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.103G>A (p.Val35Ile)	single nucleotide variant	not provided [RCV003085616]	Chr11:69818831 [GRCh38] Chr11:69633599 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.683C>T (p.Ser228Leu)	single nucleotide variant	Inborn genetic diseases [RCV002763401]	Chr11:69810342 [GRCh38] Chr11:69625110 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.220+19G>C	single nucleotide variant	not provided [RCV002938854]	Chr11:69818695 [GRCh38] Chr11:69633463 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.183C>A (p.Ser61Arg)	single nucleotide variant	Inborn genetic diseases [RCV002724329]	Chr11:69818751 [GRCh38] Chr11:69633519 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.484C>A (p.Arg162=)	single nucleotide variant	not provided [RCV003228319]	Chr11:69810541 [GRCh38] Chr11:69625309 [GRCh37] Chr11:11q13.3	conflicting interpretations of pathogenicity\|uncertain significance
NM_005247.4(FGF3):c.314T>A (p.Leu105His)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV003147250]	Chr11:69816330 [GRCh38] Chr11:69631098 [GRCh37] Chr11:11q13.3	likely pathogenic\|uncertain significance
NM_005247.4(FGF3):c.590G>A (p.Gly197Glu)	single nucleotide variant	Inborn genetic diseases [RCV003189586]	Chr11:69810435 [GRCh38] Chr11:69625203 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.544G>A (p.Val182Met)	single nucleotide variant	Inborn genetic diseases [RCV003172782]	Chr11:69810481 [GRCh38] Chr11:69625249 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.394C>T (p.Arg132Trp)	single nucleotide variant	Inborn genetic diseases [RCV003220517]\|not provided [RCV003779738]	Chr11:69810631 [GRCh38] Chr11:69625399 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.551A>T (p.Asp184Val)	single nucleotide variant	Inborn genetic diseases [RCV003186102]	Chr11:69810474 [GRCh38] Chr11:69625242 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.419C>T (p.Thr140Met)	single nucleotide variant	not provided [RCV003332480]	Chr11:69810606 [GRCh38] Chr11:69625374 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.567G>A (p.Glu189=)	single nucleotide variant	not provided [RCV003570158]	Chr11:69810458 [GRCh38] Chr11:69625226 [GRCh37] Chr11:11q13.3	likely benign
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	copy number gain	not provided [RCV003484842]	Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5	pathogenic
NM_005247.4(FGF3):c.137G>C (p.Arg46Pro)	single nucleotide variant	Deafness with labyrinthine aplasia, microtia, and microdontia [RCV003881674]	Chr11:69818797 [GRCh38] Chr11:69633565 [GRCh37] Chr11:11q13.3	uncertain significance
NM_005247.4(FGF3):c.672C>T (p.His224=)	single nucleotide variant	not provided [RCV003672510]	Chr11:69810353 [GRCh38] Chr11:69625121 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.73T>C (p.Leu25=)	single nucleotide variant	not provided [RCV003726336]	Chr11:69818861 [GRCh38] Chr11:69633629 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.498C>T (p.Gly166=)	single nucleotide variant	not provided [RCV003836955]	Chr11:69810527 [GRCh38] Chr11:69625295 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.221-15T>C	single nucleotide variant	not provided [RCV003854157]	Chr11:69816438 [GRCh38] Chr11:69631206 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.355G>T (p.Glu119Ter)	single nucleotide variant	not provided [RCV003719220]	Chr11:69810670 [GRCh38] Chr11:69625438 [GRCh37] Chr11:11q13.3	pathogenic
NM_005247.4(FGF3):c.480G>A (p.Lys160=)	single nucleotide variant	not provided [RCV003676286]	Chr11:69810545 [GRCh38] Chr11:69625313 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.324+18C>T	single nucleotide variant	not provided [RCV003820871]	Chr11:69816302 [GRCh38] Chr11:69631070 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.221-17C>A	single nucleotide variant	not provided [RCV003564749]	Chr11:69816440 [GRCh38] Chr11:69631208 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.651G>A (p.Pro217=)	single nucleotide variant	FGF3-related condition [RCV003944351]	Chr11:69810374 [GRCh38] Chr11:69625142 [GRCh37] Chr11:11q13.3	likely benign
NM_005247.4(FGF3):c.333C>T (p.Tyr111=)	single nucleotide variant	FGF3-related condition [RCV003934592]	Chr11:69810692 [GRCh38] Chr11:69625460 [GRCh37] Chr11:11q13.3	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	352
Count of miRNA genes:	339
Interacting mature miRNAs:	351
Transcripts:	ENST00000334134
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

SHGC-11930

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	69,624,748 - 69,624,957	UniSTS	GRCh37
Build 36	11	69,333,929 - 69,334,138	RGD	NCBI36
Celera	11	66,921,769 - 66,921,978	RGD
Cytogenetic Map	11	q13	UniSTS
HuRef	11	65,917,078 - 65,917,287	UniSTS
Stanford-G3 RH Map	11	3006.0	UniSTS
NCBI RH Map	11	584.1	UniSTS
GeneMap99-G3 RH Map	11	3006.0	UniSTS

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
High
Medium	13		1	1		1	5		410		12	4
Low	30		4	1	6	1	32	2	98	3	43	20				2
Below cutoff	403	230	165	49	137	36	450	284	408	24	421	152	17	1	98	253	1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AH004159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH004160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP006345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S53444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X14445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000334134 ⟹ ENSP00000334122

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	69,809,968 - 69,819,416 (-)	Ensembl

RefSeq Acc Id:

ENST00000646078

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	69,809,990 - 69,817,550 (-)	Ensembl

RefSeq Acc Id:

NM_005247 ⟹ NP_005238

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	69,809,968 - 69,819,416 (-)	NCBI
GRCh37	11	69,624,736 - 69,634,192 (-)	ENTREZGENE
Build 36	11	69,333,917 - 69,343,129 (-)	NCBI Archive
HuRef	11	65,917,066 - 65,926,354 (-)	ENTREZGENE
CHM1_1	11	69,507,656 - 69,517,018 (-)	NCBI
T2T-CHM13v2.0	11	69,826,890 - 69,836,324 (-)	NCBI

Sequence:

show sequence

AGAGCCAGGAGGGCTTTCGGGGGCGTGGGGCGCGCTGCGGAGCGGAGCCGCGGCTCGACGGCGG
TGCGCTGGCGGCGAGTGTATGCAGACGGCGCCCGGCCCGAACCCCGAGCCCCGCGGGGCTCCCC
ACCCGCCGGCCTCCCGCCCCTCCCGCGCCTCCGCCTGGGGACCACGTCGGCCTTTTGTTGGCGA
ACCGTCCTTTCTTTCAGCGCTTTGCGCAGCAACGGAAATTTCATTGCTCCTGGGTGGAAATTAA
AGGGACTCGCGTTCCCTCTCTCCCTCTCCCTCTCCCACTCTCCCTCTCTTTCTCTCTCTCGCCC
ACCCTTCCCCCTTCTTCCCCCACCTTTCCCGCGAAGCCGGAGTCAGCATCTCCAGGCGCGGGAT
CCCGCTCCGAGCACCTCGCAGCTGTCCGGCTGCCGCCCCTTCCATGGGCGCCGCGCTCGCCTGC
AGCCGCCGCCGCCGCGGGGCGGGCGCGATGCCACGATGGGCCTAATCTGGCTGCTACTGCTCAG
CCTGCTGGAGCCCGGCTGGCCCGCAGCGGGCCCTGGGGCGCGGTTGCGGCGCGATGCGGGCGGC
CGTGGCGGCGTCTACGAGCACCTTGGCGGGGCGCCCCGGCGCCGCAAGCTCTACTGCGCCACGA
AGTACCACCTCCAGCTGCACCCGAGCGGCCGCGTCAACGGCAGCCTGGAGAACAGCGCCTACAG
TATTTTGGAGATAACGGCAGTGGAGGTGGGCATTGTGGCCATCAGGGGTCTCTTCTCCGGGCGG
TACCTGGCCATGAACAAGAGGGGACGACTCTATGCTTCGGAGCACTACAGCGCCGAGTGCGAGT
TTGTGGAGCGGATCCACGAGCTGGGCTATAATACGTATGCCTCCCGGCTGTACCGGACGGTGTC
TAGTACGCCTGGGGCCCGCCGGCAGCCCAGCGCCGAGAGACTGTGGTACGTGTCTGTGAACGGC
AAGGGCCGGCCCCGCAGGGGCTTCAAGACCCGCCGCACACAGAAGTCCTCCCTGTTCCTGCCCC
GCGTGCTGGACCACAGGGACCACGAGATGGTGCGGCAGCTACAGAGTGGGCTGCCCAGACCCCC
TGGTAAGGGGGTCCAGCCCCGACGGCGGCGGCAGAAGCAGAGCCCGGATAACCTGGAGCCCTCT
CACGTTCAGGCTTCGAGACTGGGCTCCCAGCTGGAGGCCAGTGCGCACTAGCTGGGCCTGGTGG
CCACCGCCAGAGCTCCTGGCGACATCTTGGCGTGGCAGCCTCTTGACTCTGACTCTCCTCCTTG
AGCCCTTGCCCCTGCGTCCCGCGTCTGGGTTCTCAGCTATTTCCAGAGCCAGCTCAAATCAGGG
TCCAGTGGGAACTGAAGAGGGCCCAAGTCGGAGCTCGGAGGGGGCTGCCTGCAATGCAGGGCAT
TTGTGGGTCTGTGTGGCAGGAAGCCGGCAGGGAAGGGCCTGAGTGCCAGCCCTGGCAGACTGAG
GAGCCTCCCAGGAGCAGCGGGGCAGTGTGGGGCTTTGTGTCATCACAACATTAAAGTATTTTAT
TCTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005238	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI13740	(Get FASTA)	NCBI Sequence Viewer
	CAA32615	(Get FASTA)	NCBI Sequence Viewer
	EAW74753	(Get FASTA)	NCBI Sequence Viewer
	EAW74754	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000334122
	ENSP00000334122.2
GenBank Protein	P11487	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005238 ⟸ NM_005247
- Peptide Label:	precursor
- UniProtKB:	Q0VG69 (UniProtKB/Swiss-Prot), P11487 (UniProtKB/Swiss-Prot), A0A7U3JVY0 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGLIWLLLLSLLEPGWPAAGPGARLRRDAGGRGGVYEHLGGAPRRRKLYCATKYHLQLHPSGRV NGSLENSAYSILEITAVEVGIVAIRGLFSGRYLAMNKRGRLYASEHYSAECEFVERIHELGYNT YASRLYRTVSSTPGARRQPSAERLWYVSVNGKGRPRRGFKTRRTQKSSLFLPRVLDHRDHEMVR QLQSGLPRPPGKGVQPRRRRQKQSPDNLEPSHVQASRLGSQLEASAH hide sequence

RefSeq Acc Id:

ENSP00000334122 ⟸ ENST00000334134

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P11487-F1-model_v2	AlphaFold	P11487	1-239	view protein structure

Promoters

RGD ID:

7221359

Promoter ID:

EPDNEW_H16426

Type:

initiation region

Name:

FGF3_1

Description:

fibroblast growth factor 3

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	69,819,013 - 69,819,073	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:3681	AgrOrtholog
COSMIC	FGF3	COSMIC
Ensembl Genes	ENSG00000186895	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000334134	ENTREZGENE
	ENST00000334134.4	UniProtKB/Swiss-Prot
Gene3D-CATH	2.80.10.50	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000186895	GTEx
HGNC ID	HGNC:3681	ENTREZGENE
Human Proteome Map	FGF3	Human Proteome Map
InterPro	Fibroblast_GF_fam	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	IL1/FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2248	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	2248	ENTREZGENE
OMIM	164950	OMIM
PANTHER	PTHR11486	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11486:SF26	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	FGF	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28120	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	A0A7U3JVY0	ENTREZGENE, UniProtKB/TrEMBL
	FGF3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q0VG69	ENTREZGENE
UniProt Secondary	Q0VG69	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-08-16	FGF3	fibroblast growth factor 3	FGF3	fibroblast growth factor 3	Symbol and/or name change	5135510	APPROVED
2011-07-27	FGF3	fibroblast growth factor 3	FGF3	fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar