chr1:156136036:G>T 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	chr1:156,105,827-156,105,827 View the variant detail on this assembly version.
hg38	chr1:156,136,036-156,136,036

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.829G>T	NP_001269553.1:p.Glu277Ter
	NM_001282626.1:c.1072G>T	NP_001269555.1:p.Glu358Ter
	NM_170707.3:c.1072G>T	NP_733821.1:p.Glu358Ter
	NM_001282625.1:c.1072G>T	NP_001269554.1:p.Glu358Ter
	NM_005572.3:c.1072G>T	NP_005563.1:p.Glu358Ter
	NM_001257374.2:c.736G>T	NP_001244303.1:p.Glu246Ter
Ensemble	ENST00000361308.9:c.1072G>T	ENST00000361308.9:p.Glu358Ter
	ENST00000368297.5:c.829G>T	ENST00000368297.5:p.Glu277Ter
	ENST00000368299.7:c.1072G>T	ENST00000368299.7:p.Glu358Ter
	ENST00000368300.9:c.1072G>T	ENST00000368300.9:p.Glu358Ter
	ENST00000368301.6:c.1072G>T	ENST00000368301.6:p.Glu358Ter
	ENST00000448611.6:c.736G>T	ENST00000448611.6:p.Glu246Ter
	ENST00000473598.6:c.775G>T	ENST00000473598.6:p.Glu259Ter
	ENST00000504687.7:c.514G>T	ENST00000504687.7:p.Glu172Ter
	ENST00000675667.1:c.1072G>T	ENST00000675667.1:p.Glu358Ter
	ENST00000675939.1:c.1072G>T	ENST00000675939.1:p.Glu358Ter
	ENST00000676385.2:c.1072G>T	ENST00000676385.2:p.Glu358Ter
	ENST00000677389.1:c.1072G>T	ENST00000677389.1:p.Glu358Ter
	ENST00000682650.1:c.1072G>T	ENST00000682650.1:p.Glu358Ter
	ENST00000683032.1:c.1072G>T	ENST00000683032.1:p.Glu358Ter

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	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.627	progeria	The mutant constructs used included the laminopathy-inducing lamin A rod domain ...	BeFree	16440304	Detail
0.560	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.483	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1072G>T (p.Glu358Ter) AND not provided	ClinVar	Detail
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K...	DisGeNET	Detail
NA	DisGeNET	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: rs60458016 dbSNP
Genome: hg38
Position: chr1:156,136,036-156,136,036
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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