chr1:156115096:C>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	chr1:156,084,887-156,084,887 View the variant detail on this assembly version.
hg38	chr1:156,115,096-156,115,096

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.178C>T	NP_001269555.1:p.Arg60Cys
	NM_170707.3:c.178C>T	NP_733821.1:p.Arg60Cys
	NM_001282625.1:c.178C>T	NP_001269554.1:p.Arg60Cys
	NM_005572.3:c.178C>T	NP_005563.1:p.Arg60Cys
Ensemble	ENST00000361308.9:c.178C>T	ENST00000361308.9:p.Arg60Cys
	ENST00000368299.7:c.178C>T	ENST00000368299.7:p.Arg60Cys
	ENST00000368300.9:c.178C>T	ENST00000368300.9:p.Arg60Cys
	ENST00000368301.6:c.178C>T	ENST00000368301.6:p.Arg60Cys
	ENST00000675667.1:c.178C>T	ENST00000675667.1:p.Arg60Cys
	ENST00000675939.1:c.178C>T	ENST00000675939.1:p.Arg60Cys
	ENST00000676385.2:c.178C>T	ENST00000676385.2:p.Arg60Cys
	ENST00000677389.1:c.178C>T	ENST00000677389.1:p.Arg60Cys
	ENST00000682650.1:c.178C>T	ENST00000682650.1:p.Arg60Cys
	ENST00000683032.1:c.178C>T	ENST00000683032.1:p.Arg60Cys

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
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
Uncertain significance	2014-08-25	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2022-08-04	criteria provided, single submitter	cardiomyopathy	germline	Detail
Likely pathogenic	2022-11-29	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Familial Partial Lipodystrophy, Type 2	NA	CLINVAR		Detail
0.443	Cardiomyopathy, Familial Idiopathic	Missense mutations in the rod domain of the lamin A/C gene as causes of dilated ...	UNIPROT	10580070	Detail
0.002	congestive heart failure	On the other hand, affected subjects from three FPLD pedigrees with heterozygous...	BeFree	20041886	Detail
0.362	Familial Partial Lipodystrophy, Type 2	Missense mutations in the rod domain of the lamin A/C gene as causes of dilated ...	UNIPROT	10580070	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) AND not specified	ClinVar	Detail
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and c...	DisGeNET	Detail
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G...	DisGeNET	Detail
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and c...	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: rs28928900 dbSNP
Genome: hg38
Position: chr1:156,115,096-156,115,096
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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