chr1:156108549: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	chr1:156,108,549-156,108,549
hg38	chr1:156,138,758-156,138,758 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1818+151G>A
	NM_001257374.2:c.1632+1G>A
	NM_170707.3:c.1968+1G>A
Ensemble	ENST00000675939.1:c.1968+1G>A
	ENST00000675667.1:c.1969G>A	ENST00000675667.1:p.Val657Met
	ENST00000473598.6:c.1671+1G>A
	ENST00000683032.1:c.1968+1G>A
	ENST00000361308.9:c.1968+1G>A
	ENST00000368299.7:c.1818+151G>A
	ENST00000448611.6:c.1632+1G>A
	ENST00000504687.7:c.1410+1G>A
	ENST00000368300.9:c.1968+1G>A
	ENST00000682650.1:c.1878+1G>A
	ENST00000676385.2:c.1878+1G>A

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	2015-08-01	no assertion criteria provided	Hutchinson-Gilford syndrome	de novo germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2015-08-01	no assertion criteria provided	restrictive dermopathy 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Lethal tight skin contracture syndrome (disorder)	NA	CLINVAR		Detail
0.627	progeria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1968+1G>A AND Hutchinson-Gilford syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.1968+1G>A AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1968+1G>A AND Restrictive dermopathy 2	ClinVar	Detail
NA	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: rs113436208 dbSNP
Genome: hg19
Position: chr1:156,108,549-156,108,549
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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