chr1:156107004:T>C Detail (hg19) (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	chr1:156,107,004-156,107,004
hg38	chr1:156,137,213-156,137,213 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1346T>C	NP_001269553.1:p.Leu449Pro
	NM_001282625.1:c.1589T>C	NP_001269554.1:p.Leu530Pro
	NM_005572.3:c.1589T>C	NP_005563.1:p.Leu530Pro
	NM_170707.3:c.1589T>C	NP_733821.1:p.Leu530Pro
	NM_001257374.2:c.1253T>C	NP_001244303.1:p.Leu418Pro
	NM_001282626.1:c.1589T>C	NP_001269555.1:p.Leu530Pro
Ensemble	ENST00000368297.5:c.1346T>C	ENST00000368297.5:p.Leu449Pro
	ENST00000473598.6:c.1292T>C	ENST00000473598.6:p.Leu431Pro
	ENST00000683032.1:c.1589T>C	ENST00000683032.1:p.Leu530Pro
	ENST00000368301.6:c.1589T>C	ENST00000368301.6:p.Leu530Pro
	ENST00000677389.1:c.1589T>C	ENST00000677389.1:p.Leu530Pro
	ENST00000675939.1:c.1589T>C	ENST00000675939.1:p.Leu530Pro
	ENST00000675667.1:c.1589T>C	ENST00000675667.1:p.Leu530Pro
	ENST00000504687.7:c.1031T>C	ENST00000504687.7:p.Leu344Pro
	ENST00000368300.9:c.1589T>C	ENST00000368300.9:p.Leu530Pro
	ENST00000682650.1:c.1589T>C	ENST00000682650.1:p.Leu530Pro
	ENST00000676385.2:c.1589T>C	ENST00000676385.2:p.Leu530Pro
	ENST00000448611.6:c.1253T>C	ENST00000448611.6:p.Leu418Pro
	ENST00000361308.9:c.1589T>C	ENST00000361308.9:p.Leu530Pro
	ENST00000368299.7:c.1589T>C	ENST00000368299.7:p.Leu530Pro

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
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)	NA	CLINVAR		Detail
0.627	progeria	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail
0.006	muscular dystrophy	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan...	ClinVar	Detail
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	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: rs60934003 dbSNP
Genome: hg19
Position: chr1:156,107,004-156,107,004
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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