chr1:156136985:G>A Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,776-156,106,776 View the variant detail on this assembly version.
hg38 chr1:156,136,985-156,136,985

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1202G>A NP_001269553.1:p.Arg401Gln
NM_001282626.1:c.1445G>A NP_001269555.1:p.Arg482Gln
NM_170707.3:c.1445G>A NP_733821.1:p.Arg482Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 150330 OMIM
HGNC 6636 HGNC
Ensembl ENSG00000160789 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-02-19 criteria provided, multiple submitters, no conflicts Familial partial lipodystrophy, Dunnigan type germline unknown Detail
Pathogenic 2019-04-05 criteria provided, single submitter Laminopathy germline Detail
Pathogenic 2022-05-06 criteria provided, multiple submitters, no conflicts not provided de novo germline not provided Detail
Pathogenic 2013-03-01 no assertion criteria provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive germline Detail
Pathogenic 2024-01-05 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2017-12-07 criteria provided, single submitter Monogenic diabetes germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Heart-hand syndrome, Slovenian type,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Lethal tight skin contracture syndrome,congenital muscular dystrophy due to LMNA mutation,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome unknown Detail
Uncertain significance 2023-10-05 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2022-01-12 criteria provided, single submitter dilated cardiomyopathy 1A unknown Detail
Pathogenic 2020-12-03 criteria provided, single submitter germline Detail
Pathogenic 2023-09-22 criteria provided, single submitter LMNA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Dyslipidemias FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.00... BeFree 11122771 Detail
<0.001 pulmonary fibrosis A clinical picture related to the LMNA Arg482Gln mutation may be more diversifie... BeFree 19859838 Detail
0.001 hyperinsulinism Through the use of focused DNA sequencing of positional candidate genes on chrom... BeFree 11136544 Detail
0.120 Emery-Dreifuss Muscular Dystrophy 3 NA CLINVAR Detail
0.008 Acquired partial lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
0.362 Familial Partial Lipodystrophy, Type 2 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familia... UNIPROT 10587585 Detail
0.003 Diabetes We previously identified a novel mutation, namely LMNA R482Q, that was found to ... BeFree 10999845 Detail
0.008 Acquired partial lipodystrophy Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy w... BeFree 10810087 Detail
0.362 Familial Partial Lipodystrophy, Type 2 NA CLINVAR Detail
0.627 progeria The mutant constructs used included the laminopathy-inducing lamin A rod domain ... BeFree 16440304 Detail
0.026 lipodystrophy Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessiv... BeFree 23313286 Detail
0.002 Dyslipidemias Through the use of focused DNA sequencing of positional candidate genes on chrom... BeFree 11136544 Detail
0.003 diabetes mellitus We previously identified a novel mutation, namely LMNA R482Q, that was found to ... BeFree 10999845 Detail
<0.001 Hypertensive disease Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidem... BeFree 10810087 Detail
0.121 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessiv... BeFree 23313286 Detail
0.003 Diabetes Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy w... BeFree 10810087 Detail
0.157 familial partial lipodystrophy Failure of lamin A/C to functionally assemble in R482L mutated familial partial ... BeFree 14597414 Detail
<0.001 familial partial lipodystrophy Failure of lamin A/C to functionally assemble in R482L mutated familial partial ... BeFree 14597414 Detail
0.026 lipodystrophy Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidem... BeFree 10810087 Detail
0.001 hyperinsulinism FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.00... BeFree 11122771 Detail
0.026 lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
0.001 hyperinsulinism Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy w... BeFree 10810087 Detail
<0.001 Ovarian Diseases Both sisters were found to be heterozygous for the R482Q mutation in the lamin A... BeFree 18728124 Detail
0.157 familial partial lipodystrophy Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familia... BeFree 10587585 Detail
<0.001 Acquired partial lipodystrophy LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma lept... BeFree 10999791 Detail
0.003 diabetes mellitus Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy w... BeFree 10810087 Detail
0.157 familial partial lipodystrophy We describe the first cases of AR-EDMD and autosomal dominant familial partial l... BeFree 23313286 Detail
0.008 Acquired partial lipodystrophy LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma lept... BeFree 10999791 Detail
0.157 familial partial lipodystrophy Both sisters were found to be heterozygous for the R482Q mutation in the lamin A... BeFree 18728124 Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Laminopathy ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Emery-Dreifuss muscular dystrophy 3, autosomal recessi... ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Monogenic diabetes ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) AND LMNA-related disorder ClinVar Detail
FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the ge... DisGeNET Detail
A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previo... DisGeNET Detail
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we disco... DisGeNET Detail
NA DisGeNET Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... DisGeNET Detail
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystro... DisGeNET Detail
We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-ty... DisGeNET Detail
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia... DisGeNET Detail
NA DisGeNET Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K... DisGeNET Detail
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss mus... DisGeNET Detail
Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we disco... DisGeNET Detail
We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-ty... DisGeNET Detail
Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidemia, diabetes, and hy... DisGeNET Detail
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss mus... DisGeNET Detail
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia... DisGeNET Detail
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibrob... DisGeNET Detail
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibrob... DisGeNET Detail
Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidemia, diabetes, and hy... DisGeNET Detail
FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the ge... DisGeNET Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... DisGeNET Detail
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia... DisGeNET Detail
Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene,... DisGeNET Detail
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystro... DisGeNET Detail
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. DisGeNET Detail
Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia... DisGeNET Detail
We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) ... DisGeNET Detail
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. DisGeNET Detail
Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene,... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11575937 dbSNP
Genome
hg38
Position
chr1:156,136,985-156,136,985
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120134
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.324038157390913E-6
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