chr1:156107456: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	chr1:156,107,456-156,107,456
hg38	chr1:156,137,665-156,137,665 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_170707.3:c.1620G>A	NP_733821.1:p.Met540Ile
	NM_001257374.2:c.1284G>A	NP_001244303.1:p.Met428Ile
	NM_001282626.1:c.1620G>A	NP_001269555.1:p.Met540Ile
	NM_001282624.1:c.1377G>A	NP_001269553.1:p.Met459Ile
	NM_001282625.1:c.1620G>A	NP_001269554.1:p.Met540Ile
	NM_005572.3:c.1620G>A	NP_005563.1:p.Met540Ile
Ensemble	ENST00000676385.2:c.1608+433G>A
	ENST00000368300.9:c.1620G>A	ENST00000368300.9:p.Met540Ile
	ENST00000682650.1:c.1608+433G>A
	ENST00000504687.7:c.1062G>A	ENST00000504687.7:p.Met354Ile
	ENST00000448611.6:c.1284G>A	ENST00000448611.6:p.Met428Ile
	ENST00000361308.9:c.1620G>A	ENST00000361308.9:p.Met540Ile
	ENST00000368299.7:c.1620G>A	ENST00000368299.7:p.Met540Ile
	ENST00000368297.5:c.1377G>A	ENST00000368297.5:p.Met459Ile
	ENST00000473598.6:c.1323G>A	ENST00000473598.6:p.Met441Ile
	ENST00000683032.1:c.1620G>A	ENST00000683032.1:p.Met540Ile
	ENST00000677389.1:c.1620G>A	ENST00000677389.1:p.Met540Ile
	ENST00000368301.6:c.1620G>A	ENST00000368301.6:p.Met540Ile
	ENST00000675667.1:c.1620G>A	ENST00000675667.1:p.Met540Ile
	ENST00000675939.1:c.1620G>A	ENST00000675939.1:p.Met540Ile

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	2016-04-30	criteria provided, single submitter	Mandibuloacral dysplasia with type A lipodystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.485	Mandibuloacral dysostosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile) AND Mandibuloacral dysplasia with type A lipodystrophy	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: rs483352811 dbSNP
Genome: hg19
Position: chr1:156,107,456-156,107,456
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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