chr1:156136075:ATGGAGATCCACGCC> 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	chr1:156,105,866-156,105,880
hg38	chr1:156,136,075-156,136,089

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.868_882delATGGAGATCCACGCC	NP_001269553.1:p.Met290_Ala294del
	NM_001282626.1:c.1111_1125delATGGAGATCCACGCC	NP_001269555.1:p.Met371_Ala375del
	NM_170707.3:c.1111_1125delATGGAGATCCACGCC	NP_733821.1:p.Met371_Ala375del
	NM_001282625.1:c.1111_1125delATGGAGATCCACGCC	NP_001269554.1:p.Met371_Ala375del
	NM_005572.3:c.1111_1125delATGGAGATCCACGCC	NP_005563.1:p.Met371_Ala375del
	NM_001257374.2:c.775_789delATGGAGATCCACGCC	NP_001244303.1:p.Met259_Ala263del
Ensemble	ENST00000361308.9:c.1111_1125delATGGAGATCCACGCC	ENST00000361308.9:p.Met371_Ala375del
	ENST00000368297.5:c.868_882delATGGAGATCCACGCC	ENST00000368297.5:p.Met290_Ala294del
	ENST00000368299.7:c.1111_1125delATGGAGATCCACGCC	ENST00000368299.7:p.Met371_Ala375del
	ENST00000368300.9:c.1111_1125delATGGAGATCCACGCC	ENST00000368300.9:p.Met371_Ala375del
	ENST00000368301.6:c.1111_1125delATGGAGATCCACGCC	ENST00000368301.6:p.Met371_Ala375del
	ENST00000448611.6:c.775_789delATGGAGATCCACGCC	ENST00000448611.6:p.Met259_Ala263del
	ENST00000473598.6:c.814_828delATGGAGATCCACGCC	ENST00000473598.6:p.Met272_Ala276del
	ENST00000504687.7:c.553_567delATGGAGATCCACGCC	ENST00000504687.7:p.Met185_Ala189del
	ENST00000675667.1:c.1111_1125delATGGAGATCCACGCC	ENST00000675667.1:p.Met371_Ala375del
	ENST00000675939.1:c.1111_1125delATGGAGATCCACGCC	ENST00000675939.1:p.Met371_Ala375del
	ENST00000676385.2:c.1111_1125delATGGAGATCCACGCC	ENST00000676385.2:p.Met371_Ala375del
	ENST00000677389.1:c.1111_1125delATGGAGATCCACGCC	ENST00000677389.1:p.Met371_Ala375del
	ENST00000682650.1:c.1111_1125delATGGAGATCCACGCC	ENST00000682650.1:p.Met371_Ala375del
	ENST00000683032.1:c.1111_1125delATGGAGATCCACGCC	ENST00000683032.1:p.Met371_Ala375del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
Likely pathogenic	2009-04-13	no assertion criteria provided	Primary dilated cardiomyopathy	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.1111_1125del (p.Met371_Ala375del) AND Primary dilated cardiomyopathy	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: rs397517887 dbSNP
Genome: hg38
Position: chr1:156,136,075-156,136,089
Variant Type: snv
Reference Allele: ATGGAGATCCACGCC
Alternative Allele: -

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