chr1:156134497:A>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	chr1:156,104,288-156,104,288 View the variant detail on this assembly version.
hg38	chr1:156,134,497-156,134,497

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.365A>T	NP_001269553.1:p.Glu122Val
	NM_001282626.1:c.608A>T	NP_001269555.1:p.Glu203Val
	NM_170707.3:c.608A>T	NP_733821.1:p.Glu203Val
	NM_001282625.1:c.608A>T	NP_001269554.1:p.Glu203Val
	NM_005572.3:c.608A>T	NP_005563.1:p.Glu203Val
	NM_001257374.2:c.272A>T	NP_001244303.1:p.Glu91Val
Ensemble	ENST00000683032.1:c.608A>T	ENST00000683032.1:p.Glu203Val
	ENST00000361308.9:c.608A>T	ENST00000361308.9:p.Glu203Val
	ENST00000368297.5:c.365A>T	ENST00000368297.5:p.Glu122Val
	ENST00000368299.7:c.608A>T	ENST00000368299.7:p.Glu203Val
	ENST00000368300.9:c.608A>T	ENST00000368300.9:p.Glu203Val
	ENST00000368301.6:c.608A>T	ENST00000368301.6:p.Glu203Val
	ENST00000448611.6:c.272A>T	ENST00000448611.6:p.Glu91Val
	ENST00000473598.6:c.311A>T	ENST00000473598.6:p.Glu104Val
	ENST00000504687.7:c.50A>T	ENST00000504687.7:p.Glu17Val
	ENST00000675667.1:c.608A>T	ENST00000675667.1:p.Glu203Val
	ENST00000675939.1:c.608A>T	ENST00000675939.1:p.Glu203Val
	ENST00000676385.2:c.608A>T	ENST00000676385.2:p.Glu203Val
	ENST00000677389.1:c.608A>T	ENST00000677389.1:p.Glu203Val
	ENST00000682650.1:c.608A>T	ENST00000682650.1:p.Glu203Val

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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2023-08-17	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	Missense mutations in the rod domain of the lamin A/C gene as causes of dilated ...	UNIPROT	10580070	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.608A>T (p.Glu203Val) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.608A>T (p.Glu203Val) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and c...	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: rs28933092 dbSNP
Genome: hg38
Position: chr1:156,134,497-156,134,497
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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