chr1:156105912: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	chr1:156,105,912-156,105,912
hg38	chr1:156,136,121-156,136,121 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_170707.3:c.1157G>A	NP_733821.1:p.Arg386Lys
	NM_001257374.2:c.821G>A	NP_001244303.1:p.Arg274Lys
	NM_001282626.1:c.1157G>A	NP_001269555.1:p.Arg386Lys
	NM_001282624.1:c.914G>A	NP_001269553.1:p.Arg305Lys
	NM_001282625.1:c.1157G>A	NP_001269554.1:p.Arg386Lys
	NM_005572.3:c.1157G>A	NP_005563.1:p.Arg386Lys
Ensemble	ENST00000676385.2:c.1157G>A	ENST00000676385.2:p.Arg386Lys
	ENST00000504687.7:c.599G>A	ENST00000504687.7:p.Arg200Lys
	ENST00000368300.9:c.1157G>A	ENST00000368300.9:p.Arg386Lys
	ENST00000682650.1:c.1157G>A	ENST00000682650.1:p.Arg386Lys
	ENST00000448611.6:c.821G>A	ENST00000448611.6:p.Arg274Lys
	ENST00000361308.9:c.1157G>A	ENST00000361308.9:p.Arg386Lys
	ENST00000368299.7:c.1157G>A	ENST00000368299.7:p.Arg386Lys
	ENST00000368297.5:c.914G>A	ENST00000368297.5:p.Arg305Lys
	ENST00000473598.6:c.860G>A	ENST00000473598.6:p.Arg287Lys
	ENST00000683032.1:c.1157G>A	ENST00000683032.1:p.Arg386Lys
	ENST00000677389.1:c.1157G>A	ENST00000677389.1:p.Arg386Lys
	ENST00000368301.6:c.1157G>A	ENST00000368301.6:p.Arg386Lys
	ENST00000675939.1:c.1157G>A	ENST00000675939.1:p.Arg386Lys
	ENST00000675667.1:c.1157G>A	ENST00000675667.1:p.Arg386Lys

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	2019-01-08	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-02-02	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	The mutant constructs used included the laminopathy-inducing lamin A rod domain ...	BeFree	16440304	Detail
0.157	familial partial lipodystrophy	In search of a structural cause for the variety of inherited diseases caused by ...	BeFree	15748902	Detail
0.627	progeria	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail
0.273	Muscular Dystrophy, Emery-Dreifuss	In search of a structural cause for the variety of inherited diseases caused by ...	BeFree	15748902	Detail
0.006	muscular dystrophy	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K...	DisGeNET	Detail
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutatio...	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	DisGeNET	Detail
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutatio...	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	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: rs267607545 dbSNP
Genome: hg19
Position: chr1:156,105,912-156,105,912
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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