FGFR1 gene homepage

General information
Gene symbol FGFR1
Gene name fibroblast growth factor receptor 1
Chromosome 8
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_007729.1
Transcript reference NM_023110.2
Exon/intron information NM_023110.2 exon/intron table
Associated with diseases ECCL, HH-2, HRTFDS, ID, OGD, Pfeiffer, TRIGNO-1, Jackson-Weiss syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 94
Unique public DNA variants reported 75
Individuals with public variants 19
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated October 07, 2019
Version FGFR1:191007

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_023110.2.
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/FGFR1
HGNC 3688
Entrez Gene 2260
PubMed articles FGFR1
OMIM - Gene 136350
OMIM - Diseases ECCL (lipomatosis, encephalocraniocutaneous (ECCL))
HH-2 (hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH-2))
HRTFDS (Hartsfield syndrome (HRTFDS))
OGD (dysplasia, osteoglophonic (OGD))
Pfeiffer (Pfeiffer syndrome)
TRIGNO-1 (trigonocephaly, type 1 (TRIGNO-1))
Jackson-Weiss syndrome
GeneCards FGFR1
GeneTests FGFR1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024177 8 transcript variant 1 NM_023110.2 NP_075598.2 94

Copyright & disclaimer
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