chr1:156134474:C>G 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	chr1:156,104,265-156,104,265 View the variant detail on this assembly version.
hg38	chr1:156,134,474-156,134,474

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.342C>G	NP_001269553.1:p.Asn114Lys
	NM_001282626.1:c.585C>G	NP_001269555.1:p.Asn195Lys
	NM_170707.3:c.585C>G	NP_733821.1:p.Asn195Lys
	NM_001282625.1:c.585C>G	NP_001269554.1:p.Asn195Lys
	NM_005572.3:c.585C>G	NP_005563.1:p.Asn195Lys
	NM_001257374.2:c.249C>G	NP_001244303.1:p.Asn83Lys
Ensemble	ENST00000361308.9:c.585C>G	ENST00000361308.9:p.Asn195Lys
	ENST00000368297.5:c.342C>G	ENST00000368297.5:p.Asn114Lys
	ENST00000368299.7:c.585C>G	ENST00000368299.7:p.Asn195Lys
	ENST00000368300.9:c.585C>G	ENST00000368300.9:p.Asn195Lys
	ENST00000368301.6:c.585C>G	ENST00000368301.6:p.Asn195Lys
	ENST00000448611.6:c.249C>G	ENST00000448611.6:p.Asn83Lys
	ENST00000473598.6:c.288C>G	ENST00000473598.6:p.Asn96Lys
	ENST00000504687.7:c.27C>G	ENST00000504687.7:p.Asn9Lys
	ENST00000675667.1:c.585C>G	ENST00000675667.1:p.Asn195Lys
	ENST00000675939.1:c.585C>G	ENST00000675939.1:p.Asn195Lys
	ENST00000676385.2:c.585C>G	ENST00000676385.2:p.Asn195Lys
	ENST00000677389.1:c.585C>G	ENST00000677389.1:p.Asn195Lys
	ENST00000682650.1:c.585C>G	ENST00000682650.1:p.Asn195Lys
	ENST00000683032.1:c.585C>G	ENST00000683032.1:p.Asn195Lys

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	2013-05-23	no assertion criteria provided	dilated cardiomyopathy 1A	germline unknown	Detail
Pathogenic	2017-12-15	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2013-05-24	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2021-10-27	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	The mutant constructs used included the laminopathy-inducing lamin A rod domain ...	BeFree	16440304	Detail
0.443	Cardiomyopathy, Familial Idiopathic	Missense mutations in the rod domain of the lamin A/C gene as causes of dilated ...	UNIPROT	10580070	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K...	DisGeNET	Detail
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and c...	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: rs28933091 dbSNP
Genome: hg38
Position: chr1:156,134,474-156,134,474
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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