chr1:156130658:G>C Detail (hg38) (LMNA, LOC126805877)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:156,100,449-156,100,449 View the variant detail on this assembly version.
hg38	chr1:156,130,658-156,130,658

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.155G>C	NP_001269553.1:p.Arg52Pro
	NM_001282626.1:c.398G>C	NP_001269555.1:p.Arg133Pro
	NM_170707.3:c.398G>C	NP_733821.1:p.Arg133Pro
	NM_001282625.1:c.398G>C	NP_001269554.1:p.Arg133Pro
	NM_005572.3:c.398G>C	NP_005563.1:p.Arg133Pro
	NM_001257374.2:c.62G>C	NP_001244303.1:p.Arg21Pro
Ensemble	ENST00000361308.9:c.398G>C	ENST00000361308.9:p.Arg133Pro
	ENST00000368297.5:c.155G>C	ENST00000368297.5:p.Arg52Pro
	ENST00000368299.7:c.398G>C	ENST00000368299.7:p.Arg133Pro
	ENST00000368300.9:c.398G>C	ENST00000368300.9:p.Arg133Pro
	ENST00000368301.6:c.398G>C	ENST00000368301.6:p.Arg133Pro
	ENST00000448611.6:c.62G>C	ENST00000448611.6:p.Arg21Pro
	ENST00000473598.6:c.101G>C	ENST00000473598.6:p.Arg34Pro
	ENST00000504687.7:c.-161G>C
	ENST00000675667.1:c.398G>C	ENST00000675667.1:p.Arg133Pro
	ENST00000675939.1:c.398G>C	ENST00000675939.1:p.Arg133Pro
	ENST00000676385.2:c.398G>C	ENST00000676385.2:p.Arg133Pro
	ENST00000677389.1:c.398G>C	ENST00000677389.1:p.Arg133Pro
	ENST00000682650.1:c.398G>C	ENST00000682650.1:p.Arg133Pro
	ENST00000683032.1:c.398G>C	ENST00000683032.1:p.Arg133Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Pathogenic	2003-08-09	no assertion criteria provided	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Likely pathogenic	2020-03-26	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Familial Partial Lipodystrophy, Type 2	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.130	Charcot-Marie-Tooth disease	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscu...	UNIPROT	11503164	Detail
<0.001	Dwarfism	A heterozygous missense mutation substituting arginine at position 133 to leucin...	BeFree	16174718	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.	DisGeNET	Detail
A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C p...	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: rs60864230 dbSNP
Genome: hg38
Position: chr1:156,130,658-156,130,658
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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