chr1:156105867:T>A 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	chr1:156,105,867-156,105,867
hg38	chr1:156,136,076-156,136,076 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_170707.3:c.1112T>A	NP_733821.1:p.Met371Lys
	NM_001257374.2:c.776T>A	NP_001244303.1:p.Met259Lys
	NM_001282626.1:c.1112T>A	NP_001269555.1:p.Met371Lys
	NM_001282624.1:c.869T>A	NP_001269553.1:p.Met290Lys
	NM_001282625.1:c.1112T>A	NP_001269554.1:p.Met371Lys
	NM_005572.3:c.1112T>A	NP_005563.1:p.Met371Lys
Ensemble	ENST00000368300.9:c.1112T>A	ENST00000368300.9:p.Met371Lys
	ENST00000682650.1:c.1112T>A	ENST00000682650.1:p.Met371Lys
	ENST00000504687.7:c.554T>A	ENST00000504687.7:p.Met185Lys
	ENST00000676385.2:c.1112T>A	ENST00000676385.2:p.Met371Lys
	ENST00000448611.6:c.776T>A	ENST00000448611.6:p.Met259Lys
	ENST00000368299.7:c.1112T>A	ENST00000368299.7:p.Met371Lys
	ENST00000361308.9:c.1112T>A	ENST00000361308.9:p.Met371Lys
	ENST00000368297.5:c.869T>A	ENST00000368297.5:p.Met290Lys
	ENST00000683032.1:c.1112T>A	ENST00000683032.1:p.Met371Lys
	ENST00000473598.6:c.815T>A	ENST00000473598.6:p.Met272Lys
	ENST00000368301.6:c.1112T>A	ENST00000368301.6:p.Met371Lys
	ENST00000677389.1:c.1112T>A	ENST00000677389.1:p.Met371Lys
	ENST00000675939.1:c.1112T>A	ENST00000675939.1:p.Met371Lys
	ENST00000675667.1:c.1112T>A	ENST00000675667.1:p.Met371Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	The mutant constructs used included the laminopathy-inducing lamin A rod domain ...	BeFree	16440304	Detail
0.273	Muscular Dystrophy, Emery-Dreifuss	Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371...	BeFree	16825283	Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	We used the heart-selective alpha-myosin heavy chain promoter to drive expressio...	BeFree	16825283	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1112T>A (p.Met371Lys) AND not provided	ClinVar	Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K...	DisGeNET	Detail
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by...	DisGeNET	Detail
We used the heart-selective alpha-myosin heavy chain promoter to drive expression in transgenic mice...	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: rs59653062 dbSNP
Genome: hg19
Position: chr1:156,105,867-156,105,867
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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