Gene: LMNA ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. 24603298

2014
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. 24603298

2014
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE HGPS is due to a single-base substitution in exon 11 of the LMNA gene (c.1824C>T) leading to the production of a toxic form of the prelamin A protein called progerin. 26890144

2016
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE HGPS is due to a single-base substitution in exon 11 of the LMNA gene (c.1824C>T) leading to the production of a toxic form of the prelamin A protein called progerin. 26890144

2016
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 15622532

2005
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. 25216752

2014
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS. 25216752

2014
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation BEFREE Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. 21941106

2013
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Analysis of samples from six patients with Hutchinson-Gilford progeria syndrome showed that the c.1824C>T, p.G608G mutation is located in both the C and the T allele, which might account for the variability in phenotype seen among HGPS patients. 21980471

2011
dbSNP: rs56673169
rs56673169
LMNA
0.710 GeneticVariation BEFREE By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) and lamin A and C-related (hereditary) HGPS. 21738662

2011
dbSNP: rs267607591
rs267607591
LMNA
0.010 GeneticVariation BEFREE Collectively, the data provide credence to the causal role of p.Asp300Asn mutation in the pathogenesis of non-syndromic cardiac progeria. 29047356

2017
dbSNP: rs60934003
rs60934003
LMNA
0.020 GeneticVariation BEFREE Here we quantitatively examine the composition of the nuclear envelope, as well as the architecture and functions of the cytoskeleton in cells derived from two laminopathic mouse models, including Hutchinson-Gilford progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss muscular dystrophy (Lmna(-/-)). 18790843

2008
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation BEFREE Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family. 19432833

2009
dbSNP: rs57920071
rs57920071
LMNA
0.010 GeneticVariation BEFREE In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. 21993218

2011
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE In this study, we analyzed the mandibular molars of a tissue-specific mouse model that overexpresses the most common HGPS mutation (LMNA, c.1824C > T, p.G608G) in odontoblasts. 30337599

2018
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation BEFREE Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei. 27677907

2017
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and leads to the production of a truncated protein (progerin) with a dominant negative effect. 21875900

2011
dbSNP: rs60934003
rs60934003
LMNA
0.020 GeneticVariation BEFREE Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria. 15479179

2004
dbSNP: rs59267781
rs59267781
LMNA
0.720 GeneticVariation BEFREE Our data show that the progerin 5'SS is used at low yield in the absence of HGPS mutation, whereas utilization of the LAΔ35 5'SS is dependent upon the presence of the c.1868C>G mutation. 26670336

2016
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Our results also reveal a regulatory role of a subset of serine-arginine (SR)-rich proteins, including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c.1824C>T mutation is shown directly on HGPS patient cells. 21875900

2011
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE Our results also reveal a regulatory role of a subset of serine-arginine (SR)-rich proteins, including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c.1824C>T mutation is shown directly on HGPS patient cells. 21875900

2011
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE Our results suggest that the p.S143F progeria mutation has a severe impact not only on the structure of the lamina but also on the organization of interphase chromatin domains and transcription. 25738644

2015
dbSNP: rs57077886
rs57077886
LMNA
0.010 GeneticVariation BEFREE Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome. 29267953

2018
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation BEFREE Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 18796515

2008
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. 17881656

2007