chr1:156114992:G>T Detail (hg38) (LMNA, LOC129931597)

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

Genome

Assembly	Position
hg19	chr1:156,084,783-156,084,783 View the variant detail on this assembly version.
hg38	chr1:156,114,992-156,114,992

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.74G>T	NP_001269555.1:p.Arg25Leu
	NM_170707.3:c.74G>T	NP_733821.1:p.Arg25Leu
	NM_001282625.1:c.74G>T	NP_001269554.1:p.Arg25Leu
	NM_005572.3:c.74G>T	NP_005563.1:p.Arg25Leu
Ensemble	ENST00000361308.9:c.74G>T	ENST00000361308.9:p.Arg25Leu
	ENST00000368299.7:c.74G>T	ENST00000368299.7:p.Arg25Leu
	ENST00000368300.9:c.74G>T	ENST00000368300.9:p.Arg25Leu
	ENST00000368301.6:c.74G>T	ENST00000368301.6:p.Arg25Leu
	ENST00000675667.1:c.74G>T	ENST00000675667.1:p.Arg25Leu
	ENST00000675939.1:c.74G>T	ENST00000675939.1:p.Arg25Leu
	ENST00000676385.2:c.74G>T	ENST00000676385.2:p.Arg25Leu
	ENST00000677389.1:c.74G>T	ENST00000677389.1:p.Arg25Leu
	ENST00000682650.1:c.74G>T	ENST00000682650.1:p.Arg25Leu
	ENST00000683032.1:c.74G>T	ENST00000683032.1:p.Arg25Leu

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
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
Uncertain significance	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely benign	2023-12-14	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Uncertain significance	2023-04-28	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2021-12-01	criteria provided, single submitter		germline	Detail
Uncertain significance	2023-11-20	criteria provided, single submitter	Primary dilated cardiomyopathy	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.74G>T (p.Arg25Leu) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) AND Primary dilated cardiomyopathy	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: rs61578124 dbSNP
Genome: hg38
Position: chr1:156,114,992-156,114,992
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 3140
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): 44832
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.461099214846538E-5

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