chr1:156104719: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	chr1:156,104,719-156,104,719
hg38	chr1:156,134,928-156,134,928

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.763delC	NP_001269555.1:p.Gln255ArgfsTer225
	NM_001257374.2:c.427delC	NP_001244303.1:p.Gln143ArgfsTer225
	NM_170707.3:c.763delC	NP_733821.1:p.Gln255ArgfsTer225
	NM_001282625.1:c.763delC	NP_001269554.1:p.Gln255ArgfsTer225
	NM_005572.3:c.763delC	NP_005563.1:p.Gln255ArgfsTer225
	NM_001282624.1:c.520delC	NP_001269553.1:p.Gln174ArgfsTer225
Ensemble	ENST00000361308.9:c.763delC	ENST00000361308.9:p.Gln255ArgfsTer225
	ENST00000368299.7:c.763delC	ENST00000368299.7:p.Gln255ArgfsTer225
	ENST00000448611.6:c.427delC	ENST00000448611.6:p.Gln143ArgfsTer225
	ENST00000676385.2:c.763delC	ENST00000676385.2:p.Gln255ArgfsTer225
	ENST00000368300.9:c.763delC	ENST00000368300.9:p.Gln255ArgfsTer225
	ENST00000682650.1:c.763delC	ENST00000682650.1:p.Gln255ArgfsTer225
	ENST00000504687.7:c.205delC	ENST00000504687.7:p.Gln69ArgfsTer225
	ENST00000675939.1:c.763delC	ENST00000675939.1:p.Gln255ArgfsTer225
	ENST00000675667.1:c.763delC	ENST00000675667.1:p.Gln255ArgfsTer225
	ENST00000677389.1:c.763delC	ENST00000677389.1:p.Gln255ArgfsTer225
	ENST00000368301.6:c.763delC	ENST00000368301.6:p.Gln255ArgfsTer225
	ENST00000473598.6:c.466delC	ENST00000473598.6:p.Gln156ArgfsTer225
	ENST00000683032.1:c.763delC	ENST00000683032.1:p.Gln255ArgfsTer225
	ENST00000368297.5:c.520delC	ENST00000368297.5:p.Gln174ArgfsTer225

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
Likely pathogenic	2012-12-04	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-03-28	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.763del (p.Gln255fs) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.763del (p.Gln255fs) 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: rs397517908 dbSNP
Genome: hg19
Position: chr1:156,104,719-156,104,719
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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