chr1:156137666:C>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	chr1:156,107,457-156,107,457 View the variant detail on this assembly version.
hg38	chr1:156,137,666-156,137,666

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1378C>T	NP_001269553.1:p.Arg460Cys
	NM_001282626.1:c.1621C>T	NP_001269555.1:p.Arg541Cys
	NM_170707.3:c.1621C>T	NP_733821.1:p.Arg541Cys
	NM_001282625.1:c.1621C>T	NP_001269554.1:p.Arg541Cys
	NM_005572.3:c.1621C>T	NP_005563.1:p.Arg541Cys
	NM_001257374.2:c.1285C>T	NP_001244303.1:p.Arg429Cys
Ensemble	ENST00000361308.9:c.1621C>T	ENST00000361308.9:p.Arg541Cys
	ENST00000368297.5:c.1378C>T	ENST00000368297.5:p.Arg460Cys
	ENST00000368299.7:c.1621C>T	ENST00000368299.7:p.Arg541Cys
	ENST00000368300.9:c.1621C>T	ENST00000368300.9:p.Arg541Cys
	ENST00000368301.6:c.1621C>T	ENST00000368301.6:p.Arg541Cys
	ENST00000448611.6:c.1285C>T	ENST00000448611.6:p.Arg429Cys
	ENST00000473598.6:c.1324C>T	ENST00000473598.6:p.Arg442Cys
	ENST00000504687.7:c.1063C>T	ENST00000504687.7:p.Arg355Cys
	ENST00000675667.1:c.1621C>T	ENST00000675667.1:p.Arg541Cys
	ENST00000675939.1:c.1621C>T	ENST00000675939.1:p.Arg541Cys
	ENST00000676385.2:c.1608+434C>T
	ENST00000677389.1:c.1621C>T	ENST00000677389.1:p.Arg541Cys
	ENST00000682650.1:c.1608+434C>T
	ENST00000683032.1:c.1621C>T	ENST00000683032.1:p.Arg541Cys

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
Pathogenic Likely pathogenic	2018-05-31	criteria provided, multiple submitters, no conflicts	dilated cardiomyopathy 1A	germline unknown	Detail
Pathogenic	2023-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2018-04-06	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2022-06-01	criteria provided, single submitter		germline	Detail
Pathogenic	2023-12-09	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Dyskinetic syndrome	A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regio...	BeFree	21085127	Detail
0.298	Cardiomyopathy, Dilated	Dilated cardiomyopathy with profound segmental wall motion abnormalities and ven...	BeFree	19167105	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abno...	DisGeNET	Detail
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia ...	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: rs56984562 dbSNP
Genome: hg38
Position: chr1:156,137,666-156,137,666
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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