chr1:156134839:G>A 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	chr1:156,104,630-156,104,630 View the variant detail on this assembly version.
hg38	chr1:156,134,839-156,134,839

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.431G>A	NP_001269553.1:p.Arg144Gln
	NM_001282626.1:c.674G>A	NP_001269555.1:p.Arg225Gln
	NM_170707.3:c.674G>A	NP_733821.1:p.Arg225Gln
	NM_001282625.1:c.674G>A	NP_001269554.1:p.Arg225Gln
	NM_005572.3:c.674G>A	NP_005563.1:p.Arg225Gln
	NM_001257374.2:c.338G>A	NP_001244303.1:p.Arg113Gln
Ensemble	ENST00000361308.9:c.674G>A	ENST00000361308.9:p.Arg225Gln
	ENST00000368297.5:c.431G>A	ENST00000368297.5:p.Arg144Gln
	ENST00000368299.7:c.674G>A	ENST00000368299.7:p.Arg225Gln
	ENST00000368300.9:c.674G>A	ENST00000368300.9:p.Arg225Gln
	ENST00000368301.6:c.674G>A	ENST00000368301.6:p.Arg225Gln
	ENST00000448611.6:c.338G>A	ENST00000448611.6:p.Arg113Gln
	ENST00000473598.6:c.377G>A	ENST00000473598.6:p.Arg126Gln
	ENST00000504687.7:c.116G>A	ENST00000504687.7:p.Arg39Gln
	ENST00000675667.1:c.674G>A	ENST00000675667.1:p.Arg225Gln
	ENST00000675939.1:c.674G>A	ENST00000675939.1:p.Arg225Gln
	ENST00000676385.2:c.674G>A	ENST00000676385.2:p.Arg225Gln
	ENST00000677389.1:c.674G>A	ENST00000677389.1:p.Arg225Gln
	ENST00000682650.1:c.674G>A	ENST00000682650.1:p.Arg225Gln
	ENST00000683032.1:c.674G>A	ENST00000683032.1:p.Arg225Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	tgv242733250	TogoVar
	COSMIC	COSM6701791	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2012-04-01	no assertion criteria provided	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	germline	Detail
Uncertain significance	2021-06-17	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2023-11-17	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Conflicting interpretations of pathogenicity	2022-01-06	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely pathogenic	2021-07-10	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-05-04	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.121	Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation...	BeFree	22431096	Detail
0.018	muscular dystrophy	The cross-referencing of these mutations in candidate genes for muscular dystrop...	BeFree	22431096	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Emery-Dreifuss muscular dystrophy 3, autosomal recessiv...	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Abnormality of the musculature	ClinVar	Detail
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) AND Primary dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lami...	DisGeNET	Detail
The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygo...	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: rs199474724 dbSNP
Genome: hg38
Position: chr1:156,134,839-156,134,839
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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