GNRHR2
Basic information
Region (hg38): 1:145919344-145925233
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNRHR2 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Putative receptor for gonadotropin releasing hormone II (GnRH II) which is most probably non-functional. {ECO:0000269|PubMed:12538601, ECO:0000269|PubMed:19657181}.;
- Pathway
- Signaling by GPCR;Signal Transduction;Hormone ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.0344
- hipred
- hipred_score
- ghis
- 0.471
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0247
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;cellular response to hormone stimulus;cellular response to gonadotropin-releasing hormone
- Cellular component
- plasma membrane;integral component of plasma membrane
- Molecular function
- gonadotropin-releasing hormone receptor activity