The FSHR gene homepage

General information
Gene symbol FSHR
Gene name follicle stimulating hormone receptor
Chromosome 2
Chromosomal band p21-p16
Imprinted Unknown
Genomic reference NG_008146.1
Transcript reference NM_000145.3, NM_181446.2
Associated with diseases ODG1, OHSS, ovarian response to FSH stimulation
Citation reference(s) PubMed: Aittomäki et al. 1995
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 24
Unique public DNA variants reported 24
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Notes This database shows only those mutations in FSHR gene that are associated with Ovarian dysgenesis 1

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created August 23, 2012
Date last updated December 15, 2021
Version FSHR:211215

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 https://www.LOVD.nl/FSHR
External URL Finnish Disease Database
OMIM#233300 ODG1
HGNC 3969
OMIM - Gene 136435
OMIM - Diseases ODG1 (dysgenesis, ovarian, type 1 (ODG-1))
OHSS (ovarian hyperstimulation syndrome (OHSS))
ovarian response to FSH stimulation
HGMD FSHR
GeneCards FSHR
Orphanet FSHR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000269 2 transcript variant 1 NM_000145.3 NP_000136.2 24
00000270 2 transcript variant 2 NM_181446.2 NP_852111.2 12


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.