chr1:156134838: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	chr1:156,104,629-156,104,629 View the variant detail on this assembly version.
hg38	chr1:156,134,838-156,134,838

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.430C>T	NP_001269553.1:p.Arg144Ter
	NM_001282626.1:c.673C>T	NP_001269555.1:p.Arg225Ter
	NM_170707.3:c.673C>T	NP_733821.1:p.Arg225Ter
	NM_001282625.1:c.673C>T	NP_001269554.1:p.Arg225Ter
	NM_005572.3:c.673C>T	NP_005563.1:p.Arg225Ter
	NM_001257374.2:c.337C>T	NP_001244303.1:p.Arg113Ter
Ensemble	ENST00000361308.9:c.673C>T	ENST00000361308.9:p.Arg225Ter
	ENST00000368297.5:c.430C>T	ENST00000368297.5:p.Arg144Ter
	ENST00000368299.7:c.673C>T	ENST00000368299.7:p.Arg225Ter
	ENST00000368300.9:c.673C>T	ENST00000368300.9:p.Arg225Ter
	ENST00000368301.6:c.673C>T	ENST00000368301.6:p.Arg225Ter
	ENST00000448611.6:c.337C>T	ENST00000448611.6:p.Arg113Ter
	ENST00000473598.6:c.376C>T	ENST00000473598.6:p.Arg126Ter
	ENST00000504687.7:c.115C>T	ENST00000504687.7:p.Arg39Ter
	ENST00000675667.1:c.673C>T	ENST00000675667.1:p.Arg225Ter
	ENST00000675939.1:c.673C>T	ENST00000675939.1:p.Arg225Ter
	ENST00000676385.2:c.673C>T	ENST00000676385.2:p.Arg225Ter
	ENST00000677389.1:c.673C>T	ENST00000677389.1:p.Arg225Ter
	ENST00000682650.1:c.673C>T	ENST00000682650.1:p.Arg225Ter
	ENST00000683032.1:c.673C>T	ENST00000683032.1:p.Arg225Ter

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	COSM6857921	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-27	criteria provided, single submitter	dilated cardiomyopathy 1A	germline unknown	Detail
Pathogenic	2021-11-26	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2015-01-09	no assertion criteria provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail
Pathogenic	2011-12-16	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2024-01-20	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2019-11-19	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2023-02-06	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.483	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	NA	CLINVAR		Detail
<0.001	Thromboembolism	Our study confirmed that the p.R225X mutation leads to cardiac conduction diseas...	BeFree	18035086	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no de...	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: rs60682848 dbSNP
Genome: hg38
Position: chr1:156,134,838-156,134,838
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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