chr1:156104623:G>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	chr1:156,104,623-156,104,623
hg38	chr1:156,134,832-156,134,832 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.667G>A	NP_001269555.1:p.Glu223Lys
	NM_001257374.2:c.331G>A	NP_001244303.1:p.Glu111Lys
	NM_170707.3:c.667G>A	NP_733821.1:p.Glu223Lys
	NM_001282625.1:c.667G>A	NP_001269554.1:p.Glu223Lys
	NM_005572.3:c.667G>A	NP_005563.1:p.Glu223Lys
	NM_001282624.1:c.424G>A	NP_001269553.1:p.Glu142Lys
Ensemble	ENST00000361308.9:c.667G>A	ENST00000361308.9:p.Glu223Lys
	ENST00000368299.7:c.667G>A	ENST00000368299.7:p.Glu223Lys
	ENST00000448611.6:c.331G>A	ENST00000448611.6:p.Glu111Lys
	ENST00000504687.7:c.109G>A	ENST00000504687.7:p.Glu37Lys
	ENST00000368300.9:c.667G>A	ENST00000368300.9:p.Glu223Lys
	ENST00000682650.1:c.667G>A	ENST00000682650.1:p.Glu223Lys
	ENST00000676385.2:c.667G>A	ENST00000676385.2:p.Glu223Lys
	ENST00000675939.1:c.667G>A	ENST00000675939.1:p.Glu223Lys
	ENST00000675667.1:c.667G>A	ENST00000675667.1:p.Glu223Lys
	ENST00000368301.6:c.667G>A	ENST00000368301.6:p.Glu223Lys
	ENST00000677389.1:c.667G>A	ENST00000677389.1:p.Glu223Lys
	ENST00000473598.6:c.370G>A	ENST00000473598.6:p.Glu124Lys
	ENST00000683032.1:c.667G>A	ENST00000683032.1:p.Glu223Lys
	ENST00000368297.5:c.424G>A	ENST00000368297.5:p.Glu142Lys

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	Hutchinson-Gilford syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys) AND Hutchinson-Gilford syndrome	ClinVar	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: rs797044485 dbSNP
Genome: hg19
Position: chr1:156,104,623-156,104,623
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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