chr1:156105827: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	chr1:156,105,827-156,105,827
hg38	chr1:156,136,036-156,136,036 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.829G>A	NP_001269553.1:p.Glu277Lys
	NM_001282625.1:c.1072G>A	NP_001269554.1:p.Glu358Lys
	NM_005572.3:c.1072G>A	NP_005563.1:p.Glu358Lys
	NM_170707.3:c.1072G>A	NP_733821.1:p.Glu358Lys
	NM_001257374.2:c.736G>A	NP_001244303.1:p.Glu246Lys
	NM_001282626.1:c.1072G>A	NP_001269555.1:p.Glu358Lys
Ensemble	ENST00000368297.5:c.829G>A	ENST00000368297.5:p.Glu277Lys
	ENST00000683032.1:c.1072G>A	ENST00000683032.1:p.Glu358Lys
	ENST00000473598.6:c.775G>A	ENST00000473598.6:p.Glu259Lys
	ENST00000677389.1:c.1072G>A	ENST00000677389.1:p.Glu358Lys
	ENST00000368301.6:c.1072G>A	ENST00000368301.6:p.Glu358Lys
	ENST00000675939.1:c.1072G>A	ENST00000675939.1:p.Glu358Lys
	ENST00000675667.1:c.1072G>A	ENST00000675667.1:p.Glu358Lys
	ENST00000676385.2:c.1072G>A	ENST00000676385.2:p.Glu358Lys
	ENST00000368300.9:c.1072G>A	ENST00000368300.9:p.Glu358Lys
	ENST00000682650.1:c.1072G>A	ENST00000682650.1:p.Glu358Lys
	ENST00000504687.7:c.514G>A	ENST00000504687.7:p.Glu172Lys
	ENST00000448611.6:c.736G>A	ENST00000448611.6:p.Glu246Lys
	ENST00000368299.7:c.1072G>A	ENST00000368299.7:p.Glu358Lys
	ENST00000361308.9:c.1072G>A	ENST00000361308.9:p.Glu358Lys

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	2021-10-01	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	de novo germline	Detail
Pathogenic	2008-08-01	no assertion criteria provided	congenital muscular dystrophy due to LMNA mutation	germline	Detail
Pathogenic	2021-11-19	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-09-03	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2013-02-08	criteria provided, single submitter	muscular dystrophy	germline	Detail
Pathogenic	2021-05-12	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy	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
0.560	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.483	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan...	ClinVar	Detail
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND Congenital muscular dystrophy due to LMNA mutation	ClinVar	Detail
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND Muscular dystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) AND Emery-Dreifuss muscular dystrophy	ClinVar	Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs60458016 dbSNP
Genome: hg19
Position: chr1:156,105,827-156,105,827
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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