chr1:156105758:C>T Detail (hg19) (LMNA)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr1:156,105,758-156,105,758
hg38	chr1:156,135,967-156,135,967 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1003C>T	NP_001269555.1:p.Arg335Trp
	NM_170707.3:c.1003C>T	NP_733821.1:p.Arg335Trp
	NM_001257374.2:c.667C>T	NP_001244303.1:p.Arg223Trp
	NM_001282625.1:c.1003C>T	NP_001269554.1:p.Arg335Trp
	NM_005572.3:c.1003C>T	NP_005563.1:p.Arg335Trp
	NM_001282624.1:c.760C>T	NP_001269553.1:p.Arg254Trp
Ensemble	ENST00000368299.7:c.1003C>T	ENST00000368299.7:p.Arg335Trp
	ENST00000361308.9:c.1003C>T	ENST00000361308.9:p.Arg335Trp
	ENST00000368300.9:c.1003C>T	ENST00000368300.9:p.Arg335Trp
	ENST00000682650.1:c.1003C>T	ENST00000682650.1:p.Arg335Trp
	ENST00000504687.7:c.445C>T	ENST00000504687.7:p.Arg149Trp
	ENST00000676385.2:c.1003C>T	ENST00000676385.2:p.Arg335Trp
	ENST00000448611.6:c.667C>T	ENST00000448611.6:p.Arg223Trp
	ENST00000368301.6:c.1003C>T	ENST00000368301.6:p.Arg335Trp
	ENST00000677389.1:c.1003C>T	ENST00000677389.1:p.Arg335Trp
	ENST00000675667.1:c.1003C>T	ENST00000675667.1:p.Arg335Trp
	ENST00000675939.1:c.1003C>T	ENST00000675939.1:p.Arg335Trp
	ENST00000368297.5:c.760C>T	ENST00000368297.5:p.Arg254Trp
	ENST00000683032.1:c.1003C>T	ENST00000683032.1:p.Arg335Trp
	ENST00000473598.6:c.706C>T	ENST00000473598.6:p.Arg236Trp

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
Show details

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
Likely pathogenic	2011-08-18	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2021-11-09	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-10-18	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2021-03-16	criteria provided, single submitter		germline	Detail
Pathogenic	2022-03-11	no assertion criteria provided	Heart-hand syndrome, Slovenian type	germline	Detail
Pathogenic	2018-04-06	criteria provided, single submitter	Primary dilated cardiomyopathy,Laminopathy	germline	Detail
Pathogenic	2018-04-06	criteria provided, single submitter	Primary dilated cardiomyopathy,Laminopathy	germline	Detail
Pathogenic		criteria provided, single submitter	left ventricular noncompaction	germline	Detail
Pathogenic	2019-04-09	criteria provided, single submitter	arrhythmogenic right ventricular cardiomyopathy	germline	Detail
Pathogenic	2019-09-24	criteria provided, single submitter	dilated cardiomyopathy 1A	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Likely pathogenic	2022-04-04	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 3, autosomal recessive,Mandibuloacral dysplasia with type A lipodystrophy,Familial partial lipodystrophy, Dunnigan type,dilated cardiomyopathy 1A,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-04-25	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	Primary familial dilated cardiomyopathy	germline	Detail
Pathogenic	2023-04-17	criteria provided, single submitter	LMNA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.298	Cardiomyopathy, Dilated	NA	CLINVAR		Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Heart-hand syndrome, Slovenian type	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Left ventricular noncompaction	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Arrhythmogenic right ventricular cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND Primary familial dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) AND LMNA-related disorder	ClinVar	Detail
NA	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: rs386134243 dbSNP
Genome: hg19
Position: chr1:156,105,758-156,105,758
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser