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.