chr1:156134457:C>T Detail (hg38) (LMNA)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:156,104,248-156,104,248 View the variant detail on this assembly version.
hg38	chr1:156,134,457-156,134,457

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.325C>T	NP_001269553.1:p.Arg109Trp
	NM_001282626.1:c.568C>T	NP_001269555.1:p.Arg190Trp
	NM_170707.3:c.568C>T	NP_733821.1:p.Arg190Trp
	NM_001282625.1:c.568C>T	NP_001269554.1:p.Arg190Trp
	NM_005572.3:c.568C>T	NP_005563.1:p.Arg190Trp
	NM_001257374.2:c.232C>T	NP_001244303.1:p.Arg78Trp
Ensemble	ENST00000361308.9:c.568C>T	ENST00000361308.9:p.Arg190Trp
	ENST00000368297.5:c.325C>T	ENST00000368297.5:p.Arg109Trp
	ENST00000368299.7:c.568C>T	ENST00000368299.7:p.Arg190Trp
	ENST00000368300.9:c.568C>T	ENST00000368300.9:p.Arg190Trp
	ENST00000368301.6:c.568C>T	ENST00000368301.6:p.Arg190Trp
	ENST00000448611.6:c.232C>T	ENST00000448611.6:p.Arg78Trp
	ENST00000473598.6:c.271C>T	ENST00000473598.6:p.Arg91Trp
	ENST00000504687.7:c.10C>T	ENST00000504687.7:p.Arg4Trp
	ENST00000675667.1:c.568C>T	ENST00000675667.1:p.Arg190Trp
	ENST00000675939.1:c.568C>T	ENST00000675939.1:p.Arg190Trp
	ENST00000676385.2:c.568C>T	ENST00000676385.2:p.Arg190Trp
	ENST00000677389.1:c.568C>T	ENST00000677389.1:p.Arg190Trp
	ENST00000682650.1:c.568C>T	ENST00000682650.1:p.Arg190Trp
	ENST00000683032.1:c.568C>T	ENST00000683032.1:p.Arg190Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	tgv301998440	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2016-05-01	no assertion criteria provided	dilated cardiomyopathy 1S	germline	Detail
Pathogenic	2024-01-03	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2023-08-15	criteria provided, single submitter		germline	Detail
Pathogenic	2024-01-12	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-05-27	criteria provided, single submitter	LMNA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.018	myopathy	The p.R190W mutation has been reported in different populations and may therefor...	BeFree	15539782	Detail
<0.001	Left Ventricular Hypertrophy	We described an asymptomatic 28-year-old man with a R190W lamin A/C gene mutatio...	BeFree	17442430	Detail
0.443	Cardiomyopathy, Familial Idiopathic	Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A...	UNIPROT	11897440	Detail
0.007	Familial dilated cardiomyopathy	Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp)...	BeFree	17334235	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Dilated cardiomyopathy 1S	ClinVar	Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND LMNA-related disorder	ClinVar	Detail
The p.R190W mutation has been reported in different populations and may therefore be useful for anal...	DisGeNET	Detail
We described an asymptomatic 28-year-old man with a R190W lamin A/C gene mutation and mild left vent...	DisGeNET	Detail
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related di...	DisGeNET	Detail
Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helica...	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: rs59026483 dbSNP
Genome: hg38
Position: chr1:156,134,457-156,134,457
Variant Type: snv
Reference Allele: C
Alternative Allele: T

Genome browser