chr1:156134910: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	chr1:156,104,701-156,104,701 View the variant detail on this assembly version.
hg38	chr1:156,134,910-156,134,910

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.502C>T	NP_001269553.1:p.Arg168Trp
	NM_001282626.1:c.745C>T	NP_001269555.1:p.Arg249Trp
	NM_170707.3:c.745C>T	NP_733821.1:p.Arg249Trp
	NM_001282625.1:c.745C>T	NP_001269554.1:p.Arg249Trp
	NM_005572.3:c.745C>T	NP_005563.1:p.Arg249Trp
	NM_001257374.2:c.409C>T	NP_001244303.1:p.Arg137Trp
Ensemble	ENST00000361308.9:c.745C>T	ENST00000361308.9:p.Arg249Trp
	ENST00000368297.5:c.502C>T	ENST00000368297.5:p.Arg168Trp
	ENST00000368299.7:c.745C>T	ENST00000368299.7:p.Arg249Trp
	ENST00000368300.9:c.745C>T	ENST00000368300.9:p.Arg249Trp
	ENST00000368301.6:c.745C>T	ENST00000368301.6:p.Arg249Trp
	ENST00000448611.6:c.409C>T	ENST00000448611.6:p.Arg137Trp
	ENST00000473598.6:c.448C>T	ENST00000473598.6:p.Arg150Trp
	ENST00000504687.7:c.187C>T	ENST00000504687.7:p.Arg63Trp
	ENST00000675667.1:c.745C>T	ENST00000675667.1:p.Arg249Trp
	ENST00000675939.1:c.745C>T	ENST00000675939.1:p.Arg249Trp
	ENST00000676385.2:c.745C>T	ENST00000676385.2:p.Arg249Trp
	ENST00000677389.1:c.745C>T	ENST00000677389.1:p.Arg249Trp
	ENST00000682650.1:c.745C>T	ENST00000682650.1:p.Arg249Trp
	ENST00000683032.1:c.745C>T	ENST00000683032.1:p.Arg249Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2020-02-03	criteria provided, multiple submitters, no conflicts	congenital muscular dystrophy due to LMNA mutation	de novo germline unknown	Detail
Pathogenic	2018-12-04	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2012-11-13	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail
Pathogenic	2023-12-22	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND Congenital muscular dystrophy due to LMNA mutation	ClinVar	Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) AND Charcot-Marie-Tooth disease type 2	ClinVar	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: rs121912496 dbSNP
Genome: hg38
Position: chr1:156,134,910-156,134,910
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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