rs121912518
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 7 | Precocious male puberty (predicted) |
| Make rs121912518(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 48688064 |
| Gene | LHCGR, STON1-GTF2A1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912518 |
| dbSNP (classic) | rs121912518 |
| ClinGen | rs121912518 |
| ebi | rs121912518 |
| HLI | rs121912518 |
| Exac | rs121912518 |
| Gnomad | rs121912518 |
| Varsome | rs121912518 |
| LitVar | rs121912518 |
| Map | rs121912518 |
| PheGenI | rs121912518 |
| Biobank | rs121912518 |
| 1000 genomes | rs121912518 |
| hgdp | rs121912518 |
| ensembl | rs121912518 |
| geneview | rs121912518 |
| scholar | rs121912518 |
| rs121912518 | |
| pharmgkb | rs121912518 |
| gwascentral | rs121912518 |
| openSNP | rs121912518 |
| 23andMe | rs121912518 |
| SNPshot | rs121912518 |
| SNPdbe | rs121912518 |
| MSV3d | rs121912518 |
| GWAS Ctlg | rs121912518 |
| Max Magnitude | 7 |
aka c.1733A>G (p.Asp578Gly or D578G)
The rs121912518(G) mutation is considered to be a dominantly inherited mutation leading to familial male precocious puberty, and in the US (but not in Europe), it is the most common such mutation.
A 2019 article about a male inheriting such a mutation is here.
| ClinVar | |
|---|---|
| Risk | rs121912518(G;G) |
| Alt | rs121912518(G;G) |
| Reference | Rs121912518(A;A) |
| Significance | Pathogenic |
| Disease | Gonadotropin-independent familial sexual precocity |
| Variation | info |
| Gene | STON1-GTF2A1L GTF2A1L LHCGR |
| CLNDBN | Gonadotropin-independent familial sexual precocity |
| Reversed | 1 |
| HGVS | NC_000002.11:g.48915203T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015461.28, |
