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rs137854889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs137854889(-;T)
Make rs137854889(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40290879
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs137854889
dbSNP (old)rs137854889
ClinGenrs137854889
ebirs137854889
HLIrs137854889
Exacrs137854889
Varsomers137854889
Maprs137854889
PheGenIrs137854889
Biobankrs137854889
1000 genomesrs137854889
hgdprs137854889
ensemblrs137854889
gopubmedrs137854889
geneviewrs137854889
scholarrs137854889
googlers137854889
pharmgkbrs137854889
gwascentralrs137854889
openSNPrs137854889
23andMers137854889
23andMe allrs137854889
SNP Nexus

SNPshotrs137854889
SNPdbers137854889
MSV3drs137854889
GWAS Ctlgrs137854889
Max Magnitude0
OMIM606480
Desc
Variant0001
Relatedalso
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 15937076OA-icon.png] Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.


[PMID 16297189OA-icon.png] 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 21108632OA-icon.png] Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.


[PMID 21121943] Restrictive dermopathy in a Turkish newborn.