chr1:156130708:A>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	chr1:156,100,499-156,100,499 View the variant detail on this assembly version.
hg38	chr1:156,130,708-156,130,708

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.205A>C	NP_001269553.1:p.Thr69Pro
	NM_001282626.1:c.448A>C	NP_001269555.1:p.Thr150Pro
	NM_170707.3:c.448A>C	NP_733821.1:p.Thr150Pro
	NM_001282625.1:c.448A>C	NP_001269554.1:p.Thr150Pro
	NM_005572.3:c.448A>C	NP_005563.1:p.Thr150Pro
	NM_001257374.2:c.112A>C	NP_001244303.1:p.Thr38Pro
Ensemble	ENST00000361308.9:c.448A>C	ENST00000361308.9:p.Thr150Pro
	ENST00000368297.5:c.205A>C	ENST00000368297.5:p.Thr69Pro
	ENST00000368299.7:c.448A>C	ENST00000368299.7:p.Thr150Pro
	ENST00000368300.9:c.448A>C	ENST00000368300.9:p.Thr150Pro
	ENST00000368301.6:c.448A>C	ENST00000368301.6:p.Thr150Pro
	ENST00000448611.6:c.112A>C	ENST00000448611.6:p.Thr38Pro
	ENST00000473598.6:c.151A>C	ENST00000473598.6:p.Thr51Pro
	ENST00000504687.7:c.-111A>C
	ENST00000675667.1:c.448A>C	ENST00000675667.1:p.Thr150Pro
	ENST00000675939.1:c.448A>C	ENST00000675939.1:p.Thr150Pro
	ENST00000676385.2:c.448A>C	ENST00000676385.2:p.Thr150Pro
	ENST00000677389.1:c.448A>C	ENST00000677389.1:p.Thr150Pro
	ENST00000682650.1:c.448A>C	ENST00000682650.1:p.Thr150Pro
	ENST00000683032.1:c.448A>C	ENST00000683032.1:p.Thr150Pro

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
Likely pathogenic	2012-03-15	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2015-02-18	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2022-02-02	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	Mutations in the rod domain of the lamin A/C gene may cause the full clinical sp...	UNIPROT	10908904	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Inborn genetic diseases	ClinVar	Detail
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
Mutations in the rod domain of the lamin A/C gene may cause the full clinical spectrum of EDMD-AD.	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: rs58917027 dbSNP
Genome: hg38
Position: chr1:156,130,708-156,130,708
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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