 |
LHCGR |
Gene Facts External Data Attribution
- HGNC Symbol
- LHCGR (HGNC:6585) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- luteinizing hormone/choriogonadotropin receptor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HHG
- Alias symbols
- LHR, LCGR, LGR2, ULG5
- %HI
- 9.81(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.06(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:48913913-48982863 NCBI Ensembl UCSC GRCh38/hg38: chr2:48686774-48755724 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000233.4 ENST00000294954.12 (Read more about MANE Select)
- Function
- Receptor for lutropin-choriogonadotropic hormone (PubMed:11847099). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:11847099). {ECO:0000269|PubMed:11847099}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4797
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
