chr1:156130693:G>A 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	chr1:156,100,484-156,100,484 View the variant detail on this assembly version.
hg38	chr1:156,130,693-156,130,693

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.190G>A	NP_001269553.1:p.Glu64Lys
	NM_001282626.1:c.433G>A	NP_001269555.1:p.Glu145Lys
	NM_170707.3:c.433G>A	NP_733821.1:p.Glu145Lys
	NM_001282625.1:c.433G>A	NP_001269554.1:p.Glu145Lys
	NM_005572.3:c.433G>A	NP_005563.1:p.Glu145Lys
	NM_001257374.2:c.97G>A	NP_001244303.1:p.Glu33Lys
Ensemble	ENST00000361308.9:c.433G>A	ENST00000361308.9:p.Glu145Lys
	ENST00000368297.5:c.190G>A	ENST00000368297.5:p.Glu64Lys
	ENST00000368299.7:c.433G>A	ENST00000368299.7:p.Glu145Lys
	ENST00000368300.9:c.433G>A	ENST00000368300.9:p.Glu145Lys
	ENST00000368301.6:c.433G>A	ENST00000368301.6:p.Glu145Lys
	ENST00000448611.6:c.97G>A	ENST00000448611.6:p.Glu33Lys
	ENST00000473598.6:c.136G>A	ENST00000473598.6:p.Glu46Lys
	ENST00000504687.7:c.-126G>A
	ENST00000675667.1:c.433G>A	ENST00000675667.1:p.Glu145Lys
	ENST00000675939.1:c.433G>A	ENST00000675939.1:p.Glu145Lys
	ENST00000676385.2:c.433G>A	ENST00000676385.2:p.Glu145Lys
	ENST00000677389.1:c.433G>A	ENST00000677389.1:p.Glu145Lys
	ENST00000682650.1:c.433G>A	ENST00000682650.1:p.Glu145Lys
	ENST00000683032.1:c.433G>A	ENST00000683032.1:p.Glu145Lys

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	2003-05-15	no assertion criteria provided	Hutchinson-Gilford progeria syndrome, atypical	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
not provided		no assertion provided	Hutchinson-Gilford syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhi...	BeFree	21941106	Detail
0.627	progeria	Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria s...	UNIPROT	12714972	Detail
0.627	progeria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) AND Hutchinson-Gilford progeria syndrome, atypical	ClinVar	Detail
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys) AND Hutchinson-Gilford syndrome	ClinVar	Detail
Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased ela...	DisGeNET	Detail
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.	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: rs60310264 dbSNP
Genome: hg38
Position: chr1:156,130,693-156,130,693
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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