chr1:156107547:C>A Detail (hg19) (LMNA)

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

Information

Genome

Assembly	Position
hg19	chr1:156,107,547-156,107,547
hg38	chr1:156,137,756-156,137,756 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1698+13C>A
	NM_170707.3:c.1698+13C>A
	NM_001257374.2:c.1362+13C>A
	NM_001282625.1:c.1711C>A	NP_001269554.1:p.Arg571Ser
	NM_005572.3:c.1711C>A	NP_005563.1:p.Arg571Ser
	NM_001282624.1:c.1468C>A	NP_001269553.1:p.Arg490Ser
Ensemble	ENST00000361308.9:c.1698+13C>A
	ENST00000368299.7:c.1698+13C>A
	ENST00000676385.2:c.1608+524C>A
	ENST00000504687.7:c.1140+13C>A
	ENST00000368300.9:c.1698+13C>A
	ENST00000682650.1:c.1608+524C>A
	ENST00000448611.6:c.1362+13C>A
	ENST00000677389.1:c.1711C>A	ENST00000677389.1:p.Arg571Ser
	ENST00000368301.6:c.1711C>A	ENST00000368301.6:p.Arg571Ser
	ENST00000675939.1:c.1698+13C>A
	ENST00000675667.1:c.1698+13C>A
	ENST00000368297.5:c.1468C>A	ENST00000368297.5:p.Arg490Ser
	ENST00000473598.6:c.1401+13C>A
	ENST00000683032.1:c.1698+13C>A

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:0.002

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
Pathogenic	1999-12-02	no assertion criteria provided	dilated cardiomyopathy 1A	germline unknown	Detail
Uncertain significance	2021-09-29	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-11-18	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Uncertain significance	2023-10-16	criteria provided, single submitter	cardiomyopathy	germline	Detail
Likely pathogenic	2023-11-05	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Uncertain significance	2023-11-06	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND not provided	ClinVar	Detail
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND Cardiomyopathy	ClinVar	Detail
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) AND Cardiovascular phenotype	ClinVar	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: rs80338938 dbSNP
Genome: hg19
Position: chr1:156,107,547-156,107,547
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 652
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0015337423312883436
Chromosome Counts in All Race (ExAC): 17606
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 5.6798818584573444E-5

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