chr1:156105713:C> 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	chr1:156,105,713-156,105,713
hg38	chr1:156,135,922-156,135,922

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_170707.3:c.958delC	NP_733821.1:p.Leu320PhefsTer160
	NM_001257374.2:c.622delC	NP_001244303.1:p.Leu208PhefsTer160
	NM_001282626.1:c.958delC	NP_001269555.1:p.Leu320PhefsTer160
	NM_001282624.1:c.715delC	NP_001269553.1:p.Leu239PhefsTer160
	NM_001282625.1:c.958delC	NP_001269554.1:p.Leu320PhefsTer160
	NM_005572.3:c.958delC	NP_005563.1:p.Leu320PhefsTer160
Ensemble	ENST00000368300.9:c.958delC	ENST00000368300.9:p.Leu320PhefsTer160
	ENST00000682650.1:c.958delC	ENST00000682650.1:p.Leu320PhefsTer160
	ENST00000504687.7:c.400delC	ENST00000504687.7:p.Leu134PhefsTer160
	ENST00000676385.2:c.958delC	ENST00000676385.2:p.Leu320PhefsTer160
	ENST00000448611.6:c.622delC	ENST00000448611.6:p.Leu208PhefsTer160
	ENST00000361308.9:c.958delC	ENST00000361308.9:p.Leu320PhefsTer160
	ENST00000368299.7:c.958delC	ENST00000368299.7:p.Leu320PhefsTer160
	ENST00000368297.5:c.715delC	ENST00000368297.5:p.Leu239PhefsTer160
	ENST00000473598.6:c.661delC	ENST00000473598.6:p.Leu221PhefsTer160
	ENST00000683032.1:c.958delC	ENST00000683032.1:p.Leu320PhefsTer160
	ENST00000368301.6:c.958delC	ENST00000368301.6:p.Leu320PhefsTer160
	ENST00000677389.1:c.958delC	ENST00000677389.1:p.Leu320PhefsTer160
	ENST00000675939.1:c.958delC	ENST00000675939.1:p.Leu320PhefsTer160
	ENST00000675667.1:c.958delC	ENST00000675667.1:p.Leu320PhefsTer160

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	2013-02-27	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2019-11-11	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-01-14	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.958del (p.Leu320fs) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.958del (p.Leu320fs) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.958del (p.Leu320fs) AND Charcot-Marie-Tooth disease type 2	ClinVar	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: rs397517915 dbSNP
Genome: hg19
Position: chr1:156,105,713-156,105,713
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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