rs137854889
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs137854889(-;T) |
| Make rs137854889(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40290879 |
| Gene | ZMPSTE24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854889 |
| dbSNP (classic) | rs137854889 |
| ClinGen | rs137854889 |
| ebi | rs137854889 |
| HLI | rs137854889 |
| Exac | rs137854889 |
| Gnomad | rs137854889 |
| Varsome | rs137854889 |
| LitVar | rs137854889 |
| Map | rs137854889 |
| PheGenI | rs137854889 |
| Biobank | rs137854889 |
| 1000 genomes | rs137854889 |
| hgdp | rs137854889 |
| ensembl | rs137854889 |
| geneview | rs137854889 |
| scholar | rs137854889 |
| rs137854889 | |
| pharmgkb | rs137854889 |
| gwascentral | rs137854889 |
| openSNP | rs137854889 |
| 23andMe | rs137854889 |
| SNPshot | rs137854889 |
| SNPdbe | rs137854889 |
| MSV3d | rs137854889 |
| GWAS Ctlg | rs137854889 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137854889(T;T) |
| Alt | rs137854889(T;T) |
| Reference | Rs137854889(-;-) |
| Significance | Pathogenic |
| Disease | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome not provided ZMPSTE24-Related Disorders |
| Variation | info |
| Gene | ZMPSTE24 |
| CLNDBN | Mandibuloacral dysplasia with type B lipodystrophy Lethal tight skin contracture syndrome not provided ZMPSTE24-Related Disorders |
| Reversed | 0 |
| HGVS | NC_000001.10:g.40756551dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004492.4, RCV000023547.4, RCV000128723.1, RCV000335839.1, |
[PMID 15317753] Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
[PMID 15843403] Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
[PMID 12913070] Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
[PMID 15937076
] Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.
[PMID 16297189] Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
[PMID 17152860] Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
[PMID 19020898] Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
[PMID 19139791] Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.
[PMID 20034068] Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.
[PMID 21108632] Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
[PMID 21121943] Restrictive dermopathy in a Turkish newborn.
