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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
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 12
Unique public DNA variants reported 9
Individuals with public variants 12
Hidden variants 0
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 January 06, 2017
Version FGFR1:170106

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
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 12

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