chr1:156130745:T>C Detail (hg38) (LMNA, LOC126805877)

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

Genome

Assembly	Position
hg19	chr1:156,100,536-156,100,536 View the variant detail on this assembly version.
hg38	chr1:156,130,745-156,130,745

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.242T>C	NP_001269553.1:p.Leu81Pro
	NM_001282626.1:c.485T>C	NP_001269555.1:p.Leu162Pro
	NM_170707.3:c.485T>C	NP_733821.1:p.Leu162Pro
	NM_001282625.1:c.485T>C	NP_001269554.1:p.Leu162Pro
	NM_005572.3:c.485T>C	NP_005563.1:p.Leu162Pro
	NM_001257374.2:c.149T>C	NP_001244303.1:p.Leu50Pro
Ensemble	ENST00000361308.9:c.485T>C	ENST00000361308.9:p.Leu162Pro
	ENST00000368297.5:c.242T>C	ENST00000368297.5:p.Leu81Pro
	ENST00000368299.7:c.485T>C	ENST00000368299.7:p.Leu162Pro
	ENST00000368300.9:c.485T>C	ENST00000368300.9:p.Leu162Pro
	ENST00000368301.6:c.485T>C	ENST00000368301.6:p.Leu162Pro
	ENST00000448611.6:c.149T>C	ENST00000448611.6:p.Leu50Pro
	ENST00000473598.6:c.188T>C	ENST00000473598.6:p.Leu63Pro
	ENST00000504687.7:c.-74T>C
	ENST00000675667.1:c.485T>C	ENST00000675667.1:p.Leu162Pro
	ENST00000675939.1:c.485T>C	ENST00000675939.1:p.Leu162Pro
	ENST00000676385.2:c.485T>C	ENST00000676385.2:p.Leu162Pro
	ENST00000677389.1:c.485T>C	ENST00000677389.1:p.Leu162Pro
	ENST00000682650.1:c.485T>C	ENST00000682650.1:p.Leu162Pro
	ENST00000683032.1:c.485T>C	ENST00000683032.1:p.Leu162Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2009-04-02	no assertion criteria provided	Primary dilated cardiomyopathy	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics...	BeFree	18816602	Detail
0.273	Muscular Dystrophy, Emery-Dreifuss	We report the clinical characteristics, genetic analysis, and muscle biopsy find...	BeFree	18816602	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) AND not provided	ClinVar	Detail
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with au...	DisGeNET	Detail
We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family wit...	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: rs267607594 dbSNP
Genome: hg38
Position: chr1:156,130,745-156,130,745
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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