chr1:156104644:G>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	chr1:156,104,644-156,104,644
hg38	chr1:156,134,853-156,134,853 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282625.1:c.688G>A	NP_001269554.1:p.Asp230Asn
	NM_005572.3:c.688G>A	NP_005563.1:p.Asp230Asn
	NM_001282624.1:c.445G>A	NP_001269553.1:p.Asp149Asn
	NM_001282626.1:c.688G>A	NP_001269555.1:p.Asp230Asn
	NM_001257374.2:c.352G>A	NP_001244303.1:p.Asp118Asn
	NM_170707.3:c.688G>A	NP_733821.1:p.Asp230Asn
Ensemble	ENST00000675667.1:c.688G>A	ENST00000675667.1:p.Asp230Asn
	ENST00000675939.1:c.688G>A	ENST00000675939.1:p.Asp230Asn
	ENST00000368301.6:c.688G>A	ENST00000368301.6:p.Asp230Asn
	ENST00000677389.1:c.688G>A	ENST00000677389.1:p.Asp230Asn
	ENST00000683032.1:c.688G>A	ENST00000683032.1:p.Asp230Asn
	ENST00000473598.6:c.391G>A	ENST00000473598.6:p.Asp131Asn
	ENST00000368297.5:c.445G>A	ENST00000368297.5:p.Asp149Asn
	ENST00000368299.7:c.688G>A	ENST00000368299.7:p.Asp230Asn
	ENST00000361308.9:c.688G>A	ENST00000361308.9:p.Asp230Asn
	ENST00000448611.6:c.352G>A	ENST00000448611.6:p.Asp118Asn
	ENST00000504687.7:c.130G>A	ENST00000504687.7:p.Asp44Asn
	ENST00000368300.9:c.688G>A	ENST00000368300.9:p.Asp230Asn
	ENST00000682650.1:c.688G>A	ENST00000682650.1:p.Asp230Asn
	ENST00000676385.2:c.688G>A	ENST00000676385.2:p.Asp230Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2007-02-01	no assertion criteria provided	Familial partial lipodystrophy, Dunnigan type	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.362	Familial Partial Lipodystrophy, Type 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) AND not provided	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: rs61214927 dbSNP
Genome: hg19
Position: chr1:156,104,644-156,104,644
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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