View gene FGFR1

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_001174063.1
Associated with diseases HH-2, HRTFDS, ID, Pfeiffer, TRIGNO-1, Jackson-Weiss syndrome, Osteoglophonic dysplasia
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 1
Date created May 03, 2013

Links to other resources
HGNC 3688
Entrez Gene 2260
PubMed articles FGFR1
OMIM - Gene 136350
OMIM - Diseases HH-2 (hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH-2))
HRTFDS (Hartsfield syndrome (HRTFDS))
Pfeiffer (Pfeiffer syndrome)
TRIGNO-1 (trigonocephaly, type 1 (TRIGNO-1))
Jackson-Weiss syndrome
Osteoglophonic dysplasia


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007933 8 transcript variant 10 NM_001174063.1 NP_001167534.1 1