chr1:156134946:AAG> Detail (hg38) (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	chr1:156,104,737-156,104,739
hg38	chr1:156,134,946-156,134,948

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.538_540delAAG	NP_001269553.1:p.Lys180del
	NM_001282626.1:c.781_783delAAG	NP_001269555.1:p.Lys261del
	NM_170707.3:c.781_783delAAG	NP_733821.1:p.Lys261del
	NM_001282625.1:c.781_783delAAG	NP_001269554.1:p.Lys261del
	NM_005572.3:c.781_783delAAG	NP_005563.1:p.Lys261del
	NM_001257374.2:c.445_447delAAG	NP_001244303.1:p.Lys149del
Ensemble	ENST00000361308.9:c.781_783delAAG	ENST00000361308.9:p.Lys261del
	ENST00000368297.5:c.538_540delAAG	ENST00000368297.5:p.Lys180del
	ENST00000368299.7:c.781_783delAAG	ENST00000368299.7:p.Lys261del
	ENST00000368300.9:c.781_783delAAG	ENST00000368300.9:p.Lys261del
	ENST00000368301.6:c.781_783delAAG	ENST00000368301.6:p.Lys261del
	ENST00000448611.6:c.445_447delAAG	ENST00000448611.6:p.Lys149del
	ENST00000473598.6:c.484_486delAAG	ENST00000473598.6:p.Lys162del
	ENST00000504687.7:c.223_225delAAG	ENST00000504687.7:p.Lys75del
	ENST00000675667.1:c.781_783delAAG	ENST00000675667.1:p.Lys261del
	ENST00000675939.1:c.781_783delAAG	ENST00000675939.1:p.Lys261del
	ENST00000676385.2:c.781_783delAAG	ENST00000676385.2:p.Lys261del
	ENST00000677389.1:c.781_783delAAG	ENST00000677389.1:p.Lys261del
	ENST00000682650.1:c.781_783delAAG	ENST00000682650.1:p.Lys261del
	ENST00000683032.1:c.781_783delAAG	ENST00000683032.1:p.Lys261del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs58978449 dbSNP
Genome: hg38
Position: chr1:156,134,946-156,134,948
Variant Type: snv
Reference Allele: AAG
Alternative Allele: -

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