chr1:156108510:C>A Detail (hg19) (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	chr1:156,108,510-156,108,510
hg38	chr1:156,138,719-156,138,719 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1818+112C>A
	NM_001257374.2:c.1594C>A	NP_001244303.1:p.Arg532Ser
	NM_170707.3:c.1930C>A	NP_733821.1:p.Arg644Ser
Ensemble	ENST00000675939.1:c.1930C>A	ENST00000675939.1:p.Arg644Ser
	ENST00000675667.1:c.1930C>A	ENST00000675667.1:p.Arg644Ser
	ENST00000683032.1:c.1930C>A	ENST00000683032.1:p.Arg644Ser
	ENST00000473598.6:c.1633C>A	ENST00000473598.6:p.Arg545Ser
	ENST00000368299.7:c.1818+112C>A
	ENST00000361308.9:c.1930C>A	ENST00000361308.9:p.Arg644Ser
	ENST00000448611.6:c.1594C>A	ENST00000448611.6:p.Arg532Ser
	ENST00000676385.2:c.1840C>A	ENST00000676385.2:p.Arg614Ser
	ENST00000504687.7:c.1372C>A	ENST00000504687.7:p.Arg458Ser
	ENST00000368300.9:c.1930C>A	ENST00000368300.9:p.Arg644Ser
	ENST00000682650.1:c.1840C>A	ENST00000682650.1:p.Arg614Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.298	Cardiomyopathy, Dilated	The presumed pathogenic mutations were distributed with one case of suspected HC...	BeFree	22177269	Detail
0.262	Cardiomyopathy, Dilated	The presumed pathogenic mutations were distributed with one case of suspected HC...	BeFree	22177269	Detail
0.130	Charcot-Marie-Tooth disease	NA	CLINVAR		Detail
0.298	Cardiomyopathy, Dilated	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1930C>A (p.Arg644Ser) AND not provided	ClinVar	Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R...	DisGeNET	Detail
The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R...	DisGeNET	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: rs142000963 dbSNP
Genome: hg19
Position: chr1:156,108,510-156,108,510
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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