chr1:156106204:C>T Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,204-156,106,204
hg38 chr1:156,136,413-156,136,413 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_170707.3:c.1357C>T NP_733821.1:p.Arg453Trp
NM_001282625.1:c.1357C>T NP_001269554.1:p.Arg453Trp
NM_005572.3:c.1357C>T NP_005563.1:p.Arg453Trp
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic EDMD2 germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
Likely pathogenic other germline MGS000074
(TMGS000150) 		Kenjiro Kosaki
Nishino Ichizo		 Keio University
National Center of Neurology and Psychiatry
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2015-12-01 criteria provided, multiple submitters, no conflicts Emery-Dreifuss muscular dystrophy 2, autosomal dominant de novo germline unknown Detail
Pathogenic Likely pathogenic 2022-10-31 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2023-10-03 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2013-02-08 criteria provided, single submitter muscular dystrophy germline Detail
Likely pathogenic 2020-02-19 criteria provided, single submitter dilated cardiomyopathy 1A unknown Detail
Pathogenic 2021-07-10 criteria provided, single submitter de novo Detail
Pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts congenital muscular dystrophy due to LMNA mutation germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 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
<0.001 Acquired partial lipodystrophy We show here the influence of stable expression of the R453W and of the Dunnigan... BeFree 18396274 Detail
0.008 Acquired partial lipodystrophy We show here the influence of stable expression of the R453W and of the Dunnigan... BeFree 18396274 Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Overexpression of the EDMD lamin A R453W mutation in C2C12 myoblasts impairs myo... BeFree 18396274 Detail
<0.001 Muscular Dystrophy, Emery-Dreifuss The introduction of a point mutation in LB3T-Ig (R454W; LB3T-IgRW), known to cau... BeFree 16227433 Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy, on... BeFree 25343322 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan... ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Muscular dystrophy ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Abnormality of the musculature ClinVar Detail
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) AND Congenital muscular dystrophy due to LMNA mutation 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
We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipody... DisGeNET Detail
We show here the influence of stable expression of the R453W and of the Dunnigan-type partial lipody... DisGeNET Detail
Overexpression of the EDMD lamin A R453W mutation in C2C12 myoblasts impairs myogenic differentiatio... DisGeNET Detail
The introduction of a point mutation in LB3T-Ig (R454W; LB3T-IgRW), known to cause Emery-Dreifuss mu... DisGeNET Detail
Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy, one such laminopathy w... 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
rs58932704 dbSNP
Genome
hg19
Position
chr1:156,106,204-156,106,204
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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