chr1:156084953:G>A Detail (hg19) (LMNA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:156,084,953-156,084,953
hg38	chr1:156,115,162-156,115,162 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.244G>A	NP_001269555.1:p.Glu82Lys
	NM_170707.3:c.244G>A	NP_733821.1:p.Glu82Lys
	NM_001282625.1:c.244G>A	NP_001269554.1:p.Glu82Lys
	NM_005572.3:c.244G>A	NP_005563.1:p.Glu82Lys
Ensemble	ENST00000368299.7:c.244G>A	ENST00000368299.7:p.Glu82Lys
	ENST00000361308.9:c.244G>A	ENST00000361308.9:p.Glu82Lys
	ENST00000676385.2:c.244G>A	ENST00000676385.2:p.Glu82Lys
	ENST00000368300.9:c.244G>A	ENST00000368300.9:p.Glu82Lys
	ENST00000682650.1:c.244G>A	ENST00000682650.1:p.Glu82Lys
	ENST00000677389.1:c.244G>A	ENST00000677389.1:p.Glu82Lys
	ENST00000368301.6:c.244G>A	ENST00000368301.6:p.Glu82Lys
	ENST00000675939.1:c.244G>A	ENST00000675939.1:p.Glu82Lys
	ENST00000675667.1:c.244G>A	ENST00000675667.1:p.Glu82Lys
	ENST00000683032.1:c.244G>A	ENST00000683032.1:p.Glu82Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

LMNA

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	2015-03-30	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2013-09-06	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-05-27	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.007	Familial dilated cardiomyopathy	Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilate...	BeFree	20497714	Detail
0.140	Cardiomyopathies	Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduc...	BeFree	16630578	Detail
0.298	Cardiomyopathy, Dilated	We screened genetic mutations in a large Chinese family of 50 members including ...	BeFree	16630578	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy wit...	DisGeNET	Detail
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.	DisGeNET	Detail
We screened genetic mutations in a large Chinese family of 50 members including members with dilated...	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: rs59270054 dbSNP
Genome: hg19
Position: chr1:156,084,953-156,084,953
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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