Gene: LMNA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset. 23666920

2013
dbSNP: rs57318642
rs57318642
LMNA
T 0.820 CausalMutation CLINVAR Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. 23497705

2013
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: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT LMNA mutation in progeroid syndrome in association with strokes. 21791255

2012
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24. 22355414

2012
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. 19933576

2010
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: 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: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 15622532

2005
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. 15060110

2004
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 15286156

2004
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 12768443

2003
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation UNIPROT LMNA mutations in atypical Werner's syndrome. 12927431

2003
dbSNP: rs60310264
rs60310264
LMNA
A 0.820 CausalMutation CLINVAR Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 12714972

2003
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation UNIPROT

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: 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: 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: 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: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). 22991222

2012
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. 22079058

2012
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: 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