chr1:156100532:G>A Detail (hg19) (LMNA, LOC126805877)

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

Genome

Assembly	Position
hg19	chr1:156,100,532-156,100,532
hg38	chr1:156,130,741-156,130,741 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.481G>A	NP_001269555.1:p.Glu161Lys
	NM_170707.3:c.481G>A	NP_733821.1:p.Glu161Lys
	NM_001257374.2:c.145G>A	NP_001244303.1:p.Glu49Lys
	NM_001282625.1:c.481G>A	NP_001269554.1:p.Glu161Lys
	NM_005572.3:c.481G>A	NP_005563.1:p.Glu161Lys
	NM_001282624.1:c.238G>A	NP_001269553.1:p.Glu80Lys
Ensemble	ENST00000368299.7:c.481G>A	ENST00000368299.7:p.Glu161Lys
	ENST00000361308.9:c.481G>A	ENST00000361308.9:p.Glu161Lys
	ENST00000676385.2:c.481G>A	ENST00000676385.2:p.Glu161Lys
	ENST00000368300.9:c.481G>A	ENST00000368300.9:p.Glu161Lys
	ENST00000682650.1:c.481G>A	ENST00000682650.1:p.Glu161Lys
	ENST00000504687.7:c.-78G>A
	ENST00000448611.6:c.145G>A	ENST00000448611.6:p.Glu49Lys
	ENST00000677389.1:c.481G>A	ENST00000677389.1:p.Glu161Lys
	ENST00000368301.6:c.481G>A	ENST00000368301.6:p.Glu161Lys
	ENST00000675939.1:c.481G>A	ENST00000675939.1:p.Glu161Lys
	ENST00000675667.1:c.481G>A	ENST00000675667.1:p.Glu161Lys
	ENST00000368297.5:c.238G>A	ENST00000368297.5:p.Glu80Lys
	ENST00000683032.1:c.481G>A	ENST00000683032.1:p.Glu161Lys
	ENST00000473598.6:c.184G>A	ENST00000473598.6:p.Glu62Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2013-02-08	criteria provided, single submitter	dilated cardiomyopathy 1A	germline	Detail
Pathogenic Likely pathogenic	2018-12-12	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-04-10	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-09-15	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2021-04-30	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2024-01-08	criteria provided, single submitter	long QT syndrome	paternal	Detail
Pathogenic	2023-12-19	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and function...	UNIPROT	12920062	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Long QT syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) AND Cardiovascular phenotype	ClinVar	Detail
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of t...	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: rs28933093 dbSNP
Genome: hg19
Position: chr1:156,100,532-156,100,532
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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