The FGFR3 gene homepage

General information
Gene symbol FGFR3
Gene name fibroblast growth factor receptor 3
Chromosome 4
Chromosomal band p16.3
Imprinted Unknown
Genomic reference NG_012632.1
Transcript reference NM_000142.4
Exon/intron information NM_000142.4 exon/intron table
Associated with diseases ACH, CAN, cancer, bladder, CATSHL, CRC, HCH, ID, LADD, MNKES, SADDAN, TD1, TD2, TGCT, cancer, cervical, somatic, nevus, epidermal
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 360
Unique public DNA variants reported 169
Individuals with public variants 326
Hidden variants 36
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated October 22, 2021
Version FGFR3:211022

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000142.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 3690
Entrez Gene 2261
PubMed articles FGFR3
OMIM - Gene 134934
OMIM - Diseases ACH (achondroplasia (ACH))
CAN (syndrome, Crouzon, with acanthosis nigricans (CAN))
cancer, bladder
CATSHL (camptodactyly, tall stature, hearing loss (CATSHL syndrome))
CRC (cancer, colorectal (CRC))
HCH (hypochondroplasia (HCH))
LADD (syndrome, LADD (lacrimoauriculodentodigital, Levy-Hollister))
MNKES (Muenke syndrome (MNKES))
TD1 (dysplasia, thanatophoric, type I (TD1))
TD2 (dysplasia, thanatophoric, type II (TD2))
TGCT (tumor, germ cell, testicular (TGCT, spermatocytic seminoma, somatic))
cancer, cervical, somatic
nevus, epidermal
GeneCards FGFR3
GeneTests FGFR3
Orphanet FGFR3

Active transcripts




NCBI ID     

NCBI Protein ID     

00023856 4 transcript variant 1 NM_000142.4 NP_000133.1 360

Copyright & disclaimer
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