chr1:156115045: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	chr1:156,084,836-156,084,836 View the variant detail on this assembly version.
hg38	chr1:156,115,045-156,115,045

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.127G>A	NP_001269555.1:p.Ala43Thr
	NM_170707.3:c.127G>A	NP_733821.1:p.Ala43Thr
	NM_001282625.1:c.127G>A	NP_001269554.1:p.Ala43Thr
	NM_005572.3:c.127G>A	NP_005563.1:p.Ala43Thr
Ensemble	ENST00000361308.9:c.127G>A	ENST00000361308.9:p.Ala43Thr
	ENST00000368299.7:c.127G>A	ENST00000368299.7:p.Ala43Thr
	ENST00000368300.9:c.127G>A	ENST00000368300.9:p.Ala43Thr
	ENST00000368301.6:c.127G>A	ENST00000368301.6:p.Ala43Thr
	ENST00000675667.1:c.127G>A	ENST00000675667.1:p.Ala43Thr
	ENST00000675939.1:c.127G>A	ENST00000675939.1:p.Ala43Thr
	ENST00000676385.2:c.127G>A	ENST00000676385.2:p.Ala43Thr
	ENST00000677389.1:c.127G>A	ENST00000677389.1:p.Ala43Thr
	ENST00000682650.1:c.127G>A	ENST00000682650.1:p.Ala43Thr
	ENST00000683032.1:c.127G>A	ENST00000683032.1:p.Ala43Thr

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2018-04-03	criteria provided, conflicting interpretations	not provided	germline not provided	Detail
Pathogenic	2023-10-13	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)	Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscu...	UNIPROT	11503164	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.	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: rs60446065 dbSNP
Genome: hg38
Position: chr1:156,115,045-156,115,045
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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