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.