chr1:156106775:C>T Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,775-156,106,775
hg38 chr1:156,136,984-156,136,984 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1201C>T NP_001269553.1:p.Arg401Trp
NM_001282625.1:c.1444C>T NP_001269554.1:p.Arg482Trp
NM_005572.3:c.1444C>T NP_005563.1:p.Arg482Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic
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 tgv3359226 TogoVar
COSMIC COSM463140 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-11-14 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
Pathogenic 2021-02-15 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic criteria provided, single submitter Charcot-Marie-Tooth disease germline Detail
Pathogenic 2023-11-10 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2020-01-22 criteria provided, single submitter familial partial lipodystrophy germline Detail
Pathogenic 2018-11-27 criteria provided, single submitter germline Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2022-04-01 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,dilated cardiomyopathy 1A,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Mandibuloacral dysplasia with type A lipodystrophy,Emery-Dreifuss muscular dystrophy 3, autosomal recessive unknown Detail
Pathogenic 2023-10-20 criteria provided, single submitter LMNA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Familial Partial Lipodystrophy, Type 2 NA CLINVAR Detail
0.157 familial partial lipodystrophy In search of a structural cause for the variety of inherited diseases caused by ... BeFree 15748902 Detail
0.273 Muscular Dystrophy, Emery-Dreifuss In search of a structural cause for the variety of inherited diseases caused by ... BeFree 15748902 Detail
0.007 atherosclerosis Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosi... BeFree 23846499 Detail
0.157 familial partial lipodystrophy In addition, the tail regions of A-type lamin variants that occur in Dunnigan-ty... BeFree 21993218 Detail
<0.001 Acquired partial lipodystrophy We show here the influence of stable expression of the R453W and of the Dunnigan... BeFree 18396274 Detail
0.157 familial partial lipodystrophy Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in m... BeFree 25524705 Detail
<0.001 familial partial lipodystrophy In addition, the tail regions of A-type lamin variants that occur in Dunnigan-ty... BeFree 21993218 Detail
<0.001 progeria In addition, the tail regions of A-type lamin variants that occur in Dunnigan-ty... BeFree 21993218 Detail
0.157 familial partial lipodystrophy Phenotypic gender differences in subjects with familial partial lipodystrophy (D... BeFree 12669268 Detail
0.082 arteriosclerosis Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosi... BeFree 23846499 Detail
0.008 Acquired partial lipodystrophy We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Tr... BeFree 11344241 Detail
0.157 familial partial lipodystrophy By contrast, lamin A and C molecules harboring a point mutation (R482W), which g... BeFree 11792810 Detail
0.627 progeria In addition, the tail regions of A-type lamin variants that occur in Dunnigan-ty... BeFree 21993218 Detail
<0.001 Endothelial dysfunction Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosi... BeFree 23846499 Detail
0.157 familial partial lipodystrophy Structure of the lamin A/C R482W mutant responsible for dominant familial partia... BeFree 19574635 Detail
0.362 Familial Partial Lipodystrophy, Type 2 We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-... BeFree 24108105 Detail
0.008 Acquired partial lipodystrophy We show here the influence of stable expression of the R453W and of the Dunnigan... BeFree 18396274 Detail
0.157 familial partial lipodystrophy Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject h... BeFree 12832318 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND Familial partial lipodystrophy ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND multiple conditions ClinVar Detail
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) AND LMNA-related disorder ClinVar Detail
NA DisGeNET Detail
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutatio... DisGeNET Detail
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutatio... DisGeNET Detail
Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endot... DisGeNET Detail
In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial ... DisGeNET Detail
We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipody... DisGeNET Detail
Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-t... DisGeNET Detail
In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial ... DisGeNET Detail
In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial ... DisGeNET Detail
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due... DisGeNET Detail
Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endot... DisGeNET Detail
We identified a family with partial lipodystrophy carrying the R482W (Arg(482)Trp) missense mutation... DisGeNET Detail
By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a domin... DisGeNET Detail
In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial ... DisGeNET Detail
Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endot... DisGeNET Detail
Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPL... DisGeNET Detail
We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P,... DisGeNET Detail
We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipody... DisGeNET Detail
Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial ... 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
rs57920071 dbSNP
Genome
hg19
Position
chr1:156,106,775-156,106,775
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs57920071
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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