rs121912532
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121912532(C;C) |
| Make rs121912532(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 48688065 |
| Gene | LHCGR, STON1-GTF2A1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912532 |
| dbSNP (classic) | rs121912532 |
| ClinGen | rs121912532 |
| ebi | rs121912532 |
| HLI | rs121912532 |
| Exac | rs121912532 |
| Gnomad | rs121912532 |
| Varsome | rs121912532 |
| LitVar | rs121912532 |
| Map | rs121912532 |
| PheGenI | rs121912532 |
| Biobank | rs121912532 |
| 1000 genomes | rs121912532 |
| hgdp | rs121912532 |
| ensembl | rs121912532 |
| geneview | rs121912532 |
| scholar | rs121912532 |
| rs121912532 | |
| pharmgkb | rs121912532 |
| gwascentral | rs121912532 |
| openSNP | rs121912532 |
| 23andMe | rs121912532 |
| SNPshot | rs121912532 |
| SNPdbe | rs121912532 |
| MSV3d | rs121912532 |
| GWAS Ctlg | rs121912532 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912532(A;A) rs121912532(C;C) rs121912532(T;T) |
| Alt | rs121912532(A;A) rs121912532(C;C) rs121912532(T;T) |
| Reference | Rs121912532(G;G) |
| Significance | Pathogenic |
| Disease | Gonadotropin-independent familial sexual precocity Leydig cell adenoma |
| Variation | info |
| Gene | STON1-GTF2A1L GTF2A1L LHCGR |
| CLNDBN | Gonadotropin-independent familial sexual precocity Leydig cell adenoma, somatic, with male-limited precocious puberty |
| Reversed | 1 |
| HGVS | NC_000002.11:g.48915204C>A; NC_000002.11:g.48915204C>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000030141.1, RCV000015484.4, |
[PMID 170300
] Isolation of infectious bovine rhinotracheitis virus from Mustelidae.
[PMID 9039330] Clinical manifestations of genetic defects affecting gonadotrophins and their receptors.
[PMID 16123233] An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms.
[PMID 17055147] Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor.
[PMID 17055151] Potential Leydig cell mitogenic signals generated by the wild-type and constitutively active mutants of the lutropin/choriogonadotropin receptor (LHR).
[PMID 21490077] Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.
