chr1:156135924:T> Detail (hg38) (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	chr1:156,105,715-156,105,715
hg38	chr1:156,135,924-156,135,924

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.717delT	NP_001269553.1:p.Arg240GlufsTer159
	NM_001282626.1:c.960delT	NP_001269555.1:p.Arg321GlufsTer159
	NM_170707.3:c.960delT	NP_733821.1:p.Arg321GlufsTer159
	NM_001282625.1:c.960delT	NP_001269554.1:p.Arg321GlufsTer159
	NM_005572.3:c.960delT	NP_005563.1:p.Arg321GlufsTer159
	NM_001257374.2:c.624delT	NP_001244303.1:p.Arg209GlufsTer159
Ensemble	ENST00000361308.9:c.960delT	ENST00000361308.9:p.Arg321GlufsTer159
	ENST00000368297.5:c.717delT	ENST00000368297.5:p.Arg240GlufsTer159
	ENST00000368299.7:c.960delT	ENST00000368299.7:p.Arg321GlufsTer159
	ENST00000368300.9:c.960delT	ENST00000368300.9:p.Arg321GlufsTer159
	ENST00000368301.6:c.960delT	ENST00000368301.6:p.Arg321GlufsTer159
	ENST00000448611.6:c.624delT	ENST00000448611.6:p.Arg209GlufsTer159
	ENST00000473598.6:c.663delT	ENST00000473598.6:p.Arg222GlufsTer159
	ENST00000504687.7:c.402delT	ENST00000504687.7:p.Arg135GlufsTer159
	ENST00000675667.1:c.960delT	ENST00000675667.1:p.Arg321GlufsTer159
	ENST00000675939.1:c.960delT	ENST00000675939.1:p.Arg321GlufsTer159
	ENST00000676385.2:c.960delT	ENST00000676385.2:p.Arg321GlufsTer159
	ENST00000677389.1:c.960delT	ENST00000677389.1:p.Arg321GlufsTer159
	ENST00000682650.1:c.960delT	ENST00000682650.1:p.Arg321GlufsTer159
	ENST00000683032.1:c.960delT	ENST00000683032.1:p.Arg321GlufsTer159

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	2000-02-08	no assertion criteria provided	dilated cardiomyopathy 1A	germline unknown	Detail
Pathogenic	2022-11-01	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2000-02-08	no assertion criteria provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.960del (p.Arg321fs) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.960del (p.Arg321fs) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.960del (p.Arg321fs) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	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: rs56771886 dbSNP
Genome: hg38
Position: chr1:156,135,924-156,135,924
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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