FGFR3 Chromosome 4
Fibroblast growth factor receptor 3
Upload your DNA to see your personal genotypes for variants in FGFR3.
What This Gene Does
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|I-set domain containing"
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000068078
Associated Conditions (47)
FGFR3-related disorder
Inborn genetic diseases
14 conditions
Lacrimoauriculodentodigital syndrome 2
Hypochondroplasia
Achondroplasia
Connective tissue disorder
Growth failure in early childhood
Squamous cell lung carcinoma
Anophthalmia-microphthalmia syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Skeletal dysplasia
Muenke syndrome
Saethre-Chotzen syndrome
Craniosynostosis syndrome
7 conditions
Abnormality of the nervous system
FGFR3-related chondrodysplasia
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1
+27 more conditions
Key Variants
RS1367336734
Conflicting classifications of pathogenicity
Health Risk
RS138707520
Conflicting classifications of pathogenicity
Health Risk
RS139020690
Conflicting classifications of pathogenicity
FGFR3-related disorder, FGFR3-related disorder
Health Risk
RS139707740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139773438
Conflicting classifications of pathogenicity
Inborn genetic diseases, 14 conditions, FGFR3-related disorder
Health Risk
RS140594137
Conflicting classifications of pathogenicity
Health Risk
RS144546453
Conflicting classifications of pathogenicity
Health Risk
RS1448843898
Conflicting classifications of pathogenicity
Health Risk
RS144995231
Conflicting classifications of pathogenicity
Health Risk
RS1453271838
Conflicting classifications of pathogenicity
Lacrimoauriculodentodigital syndrome 2, Lacrimoauriculodentodigital syndrome 2
Health Risk
RS146970233
Conflicting classifications of pathogenicity
Health Risk
RS1474187970
Conflicting classifications of pathogenicity
Hypochondroplasia, Hypochondroplasia
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758163128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758618182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761163163 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761877926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762297923 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763302590 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764661082 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765849160 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766053734 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777091470 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779181976 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Connective tissue disorder |
| RS80053154 | Health Risk | Conflicting classifications of pathogenicity | Hypochondroplasia, Muenke syndrome, Hypochondroplasia |
| RS866774930 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886043613 | Health Risk | Conflicting classifications of pathogenicity | Genu varum, Short stature, Skeletal dysplasia |
| RS989826317 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057519049 | Health Risk | Likely pathogenic | Craniosynostosis, nonspecific, Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| RS1064796266 | Health Risk | Likely pathogenic | — |
| RS121913101 | Health Risk | Likely pathogenic | Thanatophoric dysplasia type 1, See cases, Thanatophoric dysplasia type 1 |
| RS1360936268 | Health Risk | Likely pathogenic | Achondroplasia, Achondroplasia |
| RS2108797528 | Health Risk | Likely pathogenic | Achondroplasia, Achondroplasia |
| RS2546817560 | Health Risk | Likely pathogenic | Hypochondroplasia, Hypochondroplasia |
| RS2546829391 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, 46 |
| RS774517056 | Health Risk | Likely pathogenic | Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| RS1044021305 | Health Risk | Pathogenic | Hypochondroplasia, Hypochondroplasia |
| RS1057517964 | Health Risk | Pathogenic | Hypochondroplasia, Hypochondroplasia |
| RS121913105 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, 14 conditions, Hypochondroplasia |
| RS121913111 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS121913113 | Health Risk | Pathogenic | Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| RS121913114 | Health Risk | Pathogenic | Achondroplasia, Hypochondroplasia, Achondroplasia |
| RS121913479 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, Epidermal nevus, Thanatophoric dysplasia |
| RS121913480 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS121913482 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, Skeletal dysplasia with acanthosis nigricans, Epidermal nevus |
| RS121913483 | Health Risk | Pathogenic | Seborrheic keratosis, Thanatophoric dysplasia type 1, Cervical cancer |
| RS121913484 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 1 |
| RS121913485 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, See cases, FGFR3-related disorder |
| RS1358618786 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 1 |
| RS2108783903 | Health Risk | Pathogenic | — |
| RS2108807160 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS28931614 | Health Risk | Pathogenic | Achondroplasia, Epidermal nevus, 14 conditions |
| RS28931615 | Health Risk | Pathogenic | Crouzon syndrome-acanthosis nigricans syndrome, Craniosynostosis syndrome, Inborn genetic diseases |
| RS397515514 | Health Risk | Pathogenic | Thanatophoric dysplasia type 1, 14 conditions, Connective tissue disorder |
| RS587776836 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |
| RS587777857 | Health Risk | Pathogenic | Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome |
| RS587778773 | Health Risk | Pathogenic | — |
| RS587778775 | Health Risk | Pathogenic | Hypochondroplasia, Hypochondroplasia |
| RS587778816 | Health Risk | Pathogenic | — |
| RS75790268 | Health Risk | Pathogenic | Achondroplasia, Achondroplasia |
| RS78311289 | Health Risk | Pathogenic | Spermatocytic seminoma, Multiple myeloma, Thanatophoric dysplasia |
| RS121913103 | Health Risk | Pathogenic/Likely pathogenic | Thanatophoric dysplasia type 1, See cases, FGFR3-related disorder |
| RS121913115 | Health Risk | Pathogenic/Likely pathogenic | Hypochondroplasia, Short stature, Hypochondroplasia |