rs193922688
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs193922688(-;-) |
| Make rs193922688(-;AG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 177994146 |
| Gene | PROP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922688 |
| dbSNP (classic) | rs193922688 |
| ClinGen | rs193922688 |
| ebi | rs193922688 |
| HLI | rs193922688 |
| Exac | rs193922688 |
| Gnomad | rs193922688 |
| Varsome | rs193922688 |
| LitVar | rs193922688 |
| Map | rs193922688 |
| PheGenI | rs193922688 |
| Biobank | rs193922688 |
| 1000 genomes | rs193922688 |
| hgdp | rs193922688 |
| ensembl | rs193922688 |
| geneview | rs193922688 |
| scholar | rs193922688 |
| rs193922688 | |
| pharmgkb | rs193922688 |
| gwascentral | rs193922688 |
| openSNP | rs193922688 |
| 23andMe | rs193922688 |
| SNPshot | rs193922688 |
| SNPdbe | rs193922688 |
| MSV3d | rs193922688 |
| GWAS Ctlg | rs193922688 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922688(-;-) |
| Alt | rs193922688(-;-) |
| Reference | Rs193922688(AG;AG) |
| Significance | Pathogenic |
| Disease | Pituitary hormone deficiency Pituitary hormone deficiency Combined Pituitary Hormone Deficiency |
| Variation | info |
| Gene | PROP1 |
| CLNDBN | Pituitary hormone deficiency, combined 2 Pituitary hormone deficiency, combined Combined Pituitary Hormone Deficiency, Recessive |
| Reversed | 1 |
| HGVS | NC_000005.9:g.177421147_177421148delCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008566.9, RCV000030379.1, RCV000272875.1, |
[PMID 106758] [Repeated intrauterine fetal death in a woman with genotype Rh-D-/-D-].
[PMID 9745452] The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
[PMID 12414875] Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
[PMID 15519252] Pituitary hormone deficiencies due to transcription factor gene alterations.
[PMID 16984240] PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
