chr1:156105716:C>T Detail (hg19) (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	chr1:156,105,716-156,105,716
hg38	chr1:156,135,925-156,135,925 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.961C>T	NP_001269555.1:p.Arg321Ter
	NM_001282625.1:c.961C>T	NP_001269554.1:p.Arg321Ter
	NM_005572.3:c.961C>T	NP_005563.1:p.Arg321Ter
	NM_170707.3:c.961C>T	NP_733821.1:p.Arg321Ter
	NM_001257374.2:c.625C>T	NP_001244303.1:p.Arg209Ter
	NM_001282624.1:c.718C>T	NP_001269553.1:p.Arg240Ter
Ensemble	ENST00000368299.7:c.961C>T	ENST00000368299.7:p.Arg321Ter
	ENST00000368301.6:c.961C>T	ENST00000368301.6:p.Arg321Ter
	ENST00000361308.9:c.961C>T	ENST00000361308.9:p.Arg321Ter
	ENST00000676385.2:c.961C>T	ENST00000676385.2:p.Arg321Ter
	ENST00000504687.7:c.403C>T	ENST00000504687.7:p.Arg135Ter
	ENST00000368300.9:c.961C>T	ENST00000368300.9:p.Arg321Ter
	ENST00000682650.1:c.961C>T	ENST00000682650.1:p.Arg321Ter
	ENST00000448611.6:c.625C>T	ENST00000448611.6:p.Arg209Ter
	ENST00000677389.1:c.961C>T	ENST00000677389.1:p.Arg321Ter
	ENST00000675667.1:c.961C>T	ENST00000675667.1:p.Arg321Ter
	ENST00000675939.1:c.961C>T	ENST00000675939.1:p.Arg321Ter
	ENST00000368297.5:c.718C>T	ENST00000368297.5:p.Arg240Ter
	ENST00000683032.1:c.961C>T	ENST00000683032.1:p.Arg321Ter
	ENST00000473598.6:c.664C>T	ENST00000473598.6:p.Arg222Ter

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	COSM3475157	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-06-03	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2021-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-01-30	criteria provided, single submitter		germline	Detail
Pathogenic	2024-01-16	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2022-05-31	criteria provided, single submitter	Primary familial dilated cardiomyopathy	germline	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail
Pathogenic	2021-08-24	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Charcot-Marie-Tooth disease type 2B1,Heart-hand syndrome, Slovenian type,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Hutchinson-Gilford syndrome,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,restrictive dermopathy 2,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.298	Cardiomyopathy, Dilated	The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to re...	BeFree	24001739	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND Primary familial dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) AND multiple conditions	ClinVar	Detail
The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and...	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: rs267607554 dbSNP
Genome: hg19
Position: chr1:156,105,716-156,105,716
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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