chr1:156084998:A>G 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	chr1:156,084,998-156,084,998
hg38	chr1:156,115,207-156,115,207 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282625.1:c.289A>G	NP_001269554.1:p.Lys97Glu
	NM_005572.3:c.289A>G	NP_005563.1:p.Lys97Glu
	NM_170707.3:c.289A>G	NP_733821.1:p.Lys97Glu
	NM_001282626.1:c.289A>G	NP_001269555.1:p.Lys97Glu
Ensemble	ENST00000683032.1:c.289A>G	ENST00000683032.1:p.Lys97Glu
	ENST00000675939.1:c.289A>G	ENST00000675939.1:p.Lys97Glu
	ENST00000675667.1:c.289A>G	ENST00000675667.1:p.Lys97Glu
	ENST00000677389.1:c.289A>G	ENST00000677389.1:p.Lys97Glu
	ENST00000368301.6:c.289A>G	ENST00000368301.6:p.Lys97Glu
	ENST00000676385.2:c.289A>G	ENST00000676385.2:p.Lys97Glu
	ENST00000368300.9:c.289A>G	ENST00000368300.9:p.Lys97Glu
	ENST00000682650.1:c.289A>G	ENST00000682650.1:p.Lys97Glu
	ENST00000368299.7:c.289A>G	ENST00000368299.7:p.Lys97Glu
	ENST00000361308.9:c.289A>G	ENST00000361308.9:p.Lys97Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

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

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A...	UNIPROT	11897440	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.289A>G (p.Lys97Glu) AND not provided	ClinVar	Detail
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related di...	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: rs59065411 dbSNP
Genome: hg19
Position: chr1:156,084,998-156,084,998
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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