Overview

Variant ID 6051
Entrez Gene ID 2798
Gene GNRHR (GeneCards)
Location hg19 4:68653822-68653822
hg38 4:67788104-67788104
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.68653822 G>C (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.6023
CADD Raw score (version 1.3) -0.66353 (Deleterious)
FATHMM raw prediction score 0.05573 (Tolerated)
Deleterious probability by DeFine 0.1378 (Neutral)
Entrez Gene ID 2798 (NCBI Gene)
Official Gene Symbol GNRHR (GeneCards)
Number of variants in GNRHR in this database 5 (view all the variants)
Full name gonadotropin releasing hormone receptor
Band 4q13.2
Other IDs Vega: OTTHUMG00000129302
OMIM: 138850
HGNC: HGNC:4421
Ensembl: ENSG00000109163
Other names HH7, GRHR, LRHR, LHRHR, GNRHR1
Summary This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;