chr1:156114934:C>T Detail (hg38) (LMNA, LOC129931597)

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

Information

Genome

Assembly	Position
hg19	chr1:156,084,725-156,084,725 View the variant detail on this assembly version.
hg38	chr1:156,114,934-156,114,934

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.16C>T	NP_001269555.1:p.Gln6Ter
	NM_170707.3:c.16C>T	NP_733821.1:p.Gln6Ter
	NM_001282625.1:c.16C>T	NP_001269554.1:p.Gln6Ter
	NM_005572.3:c.16C>T	NP_005563.1:p.Gln6Ter
Ensemble	ENST00000361308.9:c.16C>T	ENST00000361308.9:p.Gln6Ter
	ENST00000368299.7:c.16C>T	ENST00000368299.7:p.Gln6Ter
	ENST00000368300.9:c.16C>T	ENST00000368300.9:p.Gln6Ter
	ENST00000368301.6:c.16C>T	ENST00000368301.6:p.Gln6Ter
	ENST00000675667.1:c.16C>T	ENST00000675667.1:p.Gln6Ter
	ENST00000675939.1:c.16C>T	ENST00000675939.1:p.Gln6Ter
	ENST00000676385.2:c.16C>T	ENST00000676385.2:p.Gln6Ter
	ENST00000677389.1:c.16C>T	ENST00000677389.1:p.Gln6Ter
	ENST00000682650.1:c.16C>T	ENST00000682650.1:p.Gln6Ter
	ENST00000683032.1:c.16C>T	ENST00000683032.1:p.Gln6Ter

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-03-01	no assertion criteria provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail
Pathogenic	2011-06-02	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
not provided		no assertion provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	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: rs61046466 dbSNP
Genome: hg38
Position: chr1:156,114,934-156,114,934
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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