chr1:156138534:G>A 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	chr1:156,108,325-156,108,325 View the variant detail on this assembly version.
hg38	chr1:156,138,534-156,138,534

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1745G>A	NP_001269555.1:p.Arg582His
	NM_170707.3:c.1745G>A	NP_733821.1:p.Arg582His
	NM_001257374.2:c.1409G>A	NP_001244303.1:p.Arg470His
Ensemble	ENST00000361308.9:c.1745G>A	ENST00000361308.9:p.Arg582His
	ENST00000368299.7:c.1745G>A	ENST00000368299.7:p.Arg582His
	ENST00000368300.9:c.1745G>A	ENST00000368300.9:p.Arg582His
	ENST00000448611.6:c.1409G>A	ENST00000448611.6:p.Arg470His
	ENST00000473598.6:c.1448G>A	ENST00000473598.6:p.Arg483His
	ENST00000504687.7:c.1187G>A	ENST00000504687.7:p.Arg396His
	ENST00000675667.1:c.1745G>A	ENST00000675667.1:p.Arg582His
	ENST00000675939.1:c.1745G>A	ENST00000675939.1:p.Arg582His
	ENST00000676385.2:c.1655G>A	ENST00000676385.2:p.Arg552His
	ENST00000682650.1:c.1655G>A	ENST00000682650.1:p.Arg552His
	ENST00000683032.1:c.1745G>A	ENST00000683032.1:p.Arg582His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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	tgv184527877	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-01-01	no assertion criteria provided	Familial partial lipodystrophy, Dunnigan type	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Uncertain significance	2021-04-21	criteria provided, single submitter	cardiomyopathy	germline	Detail
Likely pathogenic	2021-02-05	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-06-15	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-08-31	criteria provided, single submitter	LMNA-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Familial Partial Lipodystrophy, Type 2	NA	CLINVAR		Detail
0.157	familial partial lipodystrophy	Although FPLD mutations are predominantly localized in exon 8 of LMNA, the findi...	BeFree	11078466	Detail
0.362	Familial Partial Lipodystrophy, Type 2	Mutational and haplotype analyses of families with familial partial lipodystroph...	UNIPROT	10739751	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) AND LMNA-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutati...	DisGeNET	Detail
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety)...	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: rs57830985 dbSNP
Genome: hg38
Position: chr1:156,138,534-156,138,534
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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