chr1:156136094:G>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	chr1:156,105,885-156,105,885 View the variant detail on this assembly version.
hg38	chr1:156,136,094-156,136,094

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.887G>T	NP_001269553.1:p.Arg296Leu
	NM_001282626.1:c.1130G>T	NP_001269555.1:p.Arg377Leu
	NM_170707.3:c.1130G>T	NP_733821.1:p.Arg377Leu
	NM_001282625.1:c.1130G>T	NP_001269554.1:p.Arg377Leu
	NM_005572.3:c.1130G>T	NP_005563.1:p.Arg377Leu
	NM_001257374.2:c.794G>T	NP_001244303.1:p.Arg265Leu
Ensemble	ENST00000361308.9:c.1130G>T	ENST00000361308.9:p.Arg377Leu
	ENST00000368297.5:c.887G>T	ENST00000368297.5:p.Arg296Leu
	ENST00000368299.7:c.1130G>T	ENST00000368299.7:p.Arg377Leu
	ENST00000368300.9:c.1130G>T	ENST00000368300.9:p.Arg377Leu
	ENST00000368301.6:c.1130G>T	ENST00000368301.6:p.Arg377Leu
	ENST00000448611.6:c.794G>T	ENST00000448611.6:p.Arg265Leu
	ENST00000473598.6:c.833G>T	ENST00000473598.6:p.Arg278Leu
	ENST00000504687.7:c.572G>T	ENST00000504687.7:p.Arg191Leu
	ENST00000675667.1:c.1130G>T	ENST00000675667.1:p.Arg377Leu
	ENST00000675939.1:c.1130G>T	ENST00000675939.1:p.Arg377Leu
	ENST00000676385.2:c.1130G>T	ENST00000676385.2:p.Arg377Leu
	ENST00000677389.1:c.1130G>T	ENST00000677389.1:p.Arg377Leu
	ENST00000682650.1:c.1130G>T	ENST00000682650.1:p.Arg377Leu
	ENST00000683032.1:c.1130G>T	ENST00000683032.1:p.Arg377Leu

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	tgv301998499	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic		no assertion criteria provided	not provided	germline not provided	Detail
Pathogenic	2024-01-22	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2021-12-10	criteria provided, single submitter		germline	Detail
Pathogenic	2023-02-14	criteria provided, single submitter	congenital muscular dystrophy due to LMNA mutation	germline	Detail
Likely pathogenic	2023-08-15	criteria provided, multiple submitters, no conflicts	Primary dilated cardiomyopathy	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
0.273	Muscular Dystrophy, Emery-Dreifuss	We have studied the expression and the localization of nuclear envelope proteins...	BeFree	15053843	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) AND Congenital muscular dystrophy due to LMNA mutation	ClinVar	Detail
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) AND Primary dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
We have studied the expression and the localization of nuclear envelope proteins in three different ...	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: rs61672878 dbSNP
Genome: hg38
Position: chr1:156,136,094-156,136,094
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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