chr1:156108550:T>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	chr1:156,108,550-156,108,550
hg38	chr1:156,138,759-156,138,759 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1818+152T>G
	NM_170707.3:c.1968+2T>G
	NM_001257374.2:c.1632+2T>G
Ensemble	ENST00000368299.7:c.1818+152T>G
	ENST00000361308.9:c.1968+2T>G
	ENST00000676385.2:c.1878+2T>G
	ENST00000504687.7:c.1410+2T>G
	ENST00000368300.9:c.1968+2T>G
	ENST00000682650.1:c.1878+2T>G
	ENST00000448611.6:c.1632+2T>G
	ENST00000675939.1:c.1968+2T>G
	ENST00000675667.1:c.1970T>G	ENST00000675667.1:p.Val657Gly
	ENST00000683032.1:c.1968+2T>G
	ENST00000473598.6:c.1671+2T>G

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
0.627	progeria	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: rs113860699 dbSNP
Genome: hg19
Position: chr1:156,108,550-156,108,550
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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