chr1:156106789:G>T 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	chr1:156,106,789-156,106,789
hg38	chr1:156,136,998-156,136,998 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_170707.3:c.1458G>T	NP_733821.1:p.Lys486Asn
	NM_001257374.2:c.1122G>T	NP_001244303.1:p.Lys374Asn
	NM_001282626.1:c.1458G>T	NP_001269555.1:p.Lys486Asn
	NM_001282624.1:c.1215G>T	NP_001269553.1:p.Lys405Asn
	NM_001282625.1:c.1458G>T	NP_001269554.1:p.Lys486Asn
	NM_005572.3:c.1458G>T	NP_005563.1:p.Lys486Asn
Ensemble	ENST00000368300.9:c.1458G>T	ENST00000368300.9:p.Lys486Asn
	ENST00000682650.1:c.1458G>T	ENST00000682650.1:p.Lys486Asn
	ENST00000504687.7:c.900G>T	ENST00000504687.7:p.Lys300Asn
	ENST00000676385.2:c.1458G>T	ENST00000676385.2:p.Lys486Asn
	ENST00000448611.6:c.1122G>T	ENST00000448611.6:p.Lys374Asn
	ENST00000368299.7:c.1458G>T	ENST00000368299.7:p.Lys486Asn
	ENST00000361308.9:c.1458G>T	ENST00000361308.9:p.Lys486Asn
	ENST00000368297.5:c.1215G>T	ENST00000368297.5:p.Lys405Asn
	ENST00000683032.1:c.1458G>T	ENST00000683032.1:p.Lys486Asn
	ENST00000473598.6:c.1161G>T	ENST00000473598.6:p.Lys387Asn
	ENST00000368301.6:c.1458G>T	ENST00000368301.6:p.Lys486Asn
	ENST00000677389.1:c.1458G>T	ENST00000677389.1:p.Lys486Asn
	ENST00000675667.1:c.1458G>T	ENST00000675667.1:p.Lys486Asn
	ENST00000675939.1:c.1458G>T	ENST00000675939.1:p.Lys486Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2015-01-29	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type	germline	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.1458G>T (p.Lys486Asn) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) AND Familial partial lipodystrophy, Dunnigan type	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: rs59981161 dbSNP
Genome: hg19
Position: chr1:156,106,789-156,106,789
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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