chr1:156136951:C>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	chr1:156,106,742-156,106,742 View the variant detail on this assembly version.
hg38	chr1:156,136,951-156,136,951

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1168C>T	NP_001269553.1:p.Arg390Cys
	NM_001282626.1:c.1411C>T	NP_001269555.1:p.Arg471Cys
	NM_170707.3:c.1411C>T	NP_733821.1:p.Arg471Cys
	NM_001282625.1:c.1411C>T	NP_001269554.1:p.Arg471Cys
	NM_005572.3:c.1411C>T	NP_005563.1:p.Arg471Cys
	NM_001257374.2:c.1075C>T	NP_001244303.1:p.Arg359Cys
Ensemble	ENST00000361308.9:c.1411C>T	ENST00000361308.9:p.Arg471Cys
	ENST00000368297.5:c.1168C>T	ENST00000368297.5:p.Arg390Cys
	ENST00000368299.7:c.1411C>T	ENST00000368299.7:p.Arg471Cys
	ENST00000368300.9:c.1411C>T	ENST00000368300.9:p.Arg471Cys
	ENST00000368301.6:c.1411C>T	ENST00000368301.6:p.Arg471Cys
	ENST00000448611.6:c.1075C>T	ENST00000448611.6:p.Arg359Cys
	ENST00000473598.6:c.1114C>T	ENST00000473598.6:p.Arg372Cys
	ENST00000504687.7:c.853C>T	ENST00000504687.7:p.Arg285Cys
	ENST00000675667.1:c.1411C>T	ENST00000675667.1:p.Arg471Cys
	ENST00000675939.1:c.1411C>T	ENST00000675939.1:p.Arg471Cys
	ENST00000676385.2:c.1411C>T	ENST00000676385.2:p.Arg471Cys
	ENST00000677389.1:c.1411C>T	ENST00000677389.1:p.Arg471Cys
	ENST00000682650.1:c.1411C>T	ENST00000682650.1:p.Arg471Cys
	ENST00000683032.1:c.1411C>T	ENST00000683032.1:p.Arg471Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	2008-04-15	no assertion criteria provided	Mandibuloacral dysplasia with type A lipodystrophy, atypical	germline	Detail
Conflicting interpretations of pathogenicity	2024-03-01	criteria provided, conflicting interpretations	not provided	germline not provided	Detail
Pathogenic	2023-08-24	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Charcot-Marie-Tooth disease	NA	CLINVAR		Detail
0.627	progeria	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail
0.006	muscular dystrophy	The inner nuclear membrane protein emerin was mislocalised upon expression of th...	BeFree	16772334	Detail
0.008	Acquired partial lipodystrophy	We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome...	BeFree	18041775	Detail
0.627	progeria	LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann...	UNIPROT	12768443	Detail
0.004	Contracture	We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome...	BeFree	18041775	Detail
0.157	familial partial lipodystrophy	The heterozygous LMNA mutation p.R471G causes a variable phenotype with features...	BeFree	18041775	Detail
0.485	Mandibuloacral dysostosis	Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral...	BeFree	18348272	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) AND Mandibuloacral dysplasia with type A lipodystrophy, at...	ClinVar	Detail
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	DisGeNET	Detail
The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy...	DisGeNET	Detail
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial ...	DisGeNET	Detail
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch proge...	DisGeNET	Detail
We report on a novel LMNA mutation (p.R471G) in a proband affected by a syndrome comprising partial ...	DisGeNET	Detail
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of fam...	DisGeNET	Detail
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria...	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: rs28928902 dbSNP
Genome: hg38
Position: chr1:156,136,951-156,136,951
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8476
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117104
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.5618253859816914E-5

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