View gene FGFR3

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
Associated with diseases cancer, bladder, CATSHL, CRC, ID, MNKES, SADDAN, TD-1, TD-2, achondroplasia, cancer, cervical, somatic, Crouzon syndrome, with acanthosis nigricans, Hypochondroplasia, LADD syndrome, Nevus, epidermal, somatic, Spermatocytic seminoma, somatic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karen E. Heath
Total number of public variants reported 9
Unique public DNA variants reported 5
Individuals with public variants 11
Hidden variants 14
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 April 02, 2015
Version FGFR3:150402

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/FGFR3
HGNC 3690
Entrez Gene 2261
PubMed articles FGFR3
OMIM - Gene 134934
OMIM - Diseases cancer, bladder
CATSHL (camptodactyly, tall stature, hearing loss (CATSHL syndrome))
CRC (cancer, colorectal (CRC))
MNKES (Muenke syndrome (MNKES))
SADDAN
TD-1 (dysplasia, thanatophoric, type I (TD-1))
TD-2 (dysplasia, thanatophoric, type II (TD-2))
achondroplasia
cancer, cervical, somatic
Crouzon syndrome, with acanthosis nigricans
Hypochondroplasia
LADD syndrome
Nevus, epidermal, somatic
Spermatocytic seminoma, somatic
HGMD FGFR3
GeneCards FGFR3
GeneTests FGFR3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023856 4 transcript variant 1 NM_000142.4 NP_000133.1 23


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