chr1:156084791:C>G Detail (hg19) (LMNA, LOC129931597)

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

Genome

Assembly	Position
hg19	chr1:156,084,791-156,084,791
hg38	chr1:156,115,000-156,115,000 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.82C>G	NP_001269555.1:p.Arg28Gly
	NM_170707.3:c.82C>G	NP_733821.1:p.Arg28Gly
	NM_001282625.1:c.82C>G	NP_001269554.1:p.Arg28Gly
	NM_005572.3:c.82C>G	NP_005563.1:p.Arg28Gly
Ensemble	ENST00000368299.7:c.82C>G	ENST00000368299.7:p.Arg28Gly
	ENST00000361308.9:c.82C>G	ENST00000361308.9:p.Arg28Gly
	ENST00000676385.2:c.82C>G	ENST00000676385.2:p.Arg28Gly
	ENST00000368300.9:c.82C>G	ENST00000368300.9:p.Arg28Gly
	ENST00000682650.1:c.82C>G	ENST00000682650.1:p.Arg28Gly
	ENST00000675939.1:c.82C>G	ENST00000675939.1:p.Arg28Gly
	ENST00000675667.1:c.82C>G	ENST00000675667.1:p.Arg28Gly
	ENST00000677389.1:c.82C>G	ENST00000677389.1:p.Arg28Gly
	ENST00000368301.6:c.82C>G	ENST00000368301.6:p.Arg28Gly
	ENST00000683032.1:c.82C>G	ENST00000683032.1:p.Arg28Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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
Likely pathogenic	2012-12-28	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	congestive heart failure	On the other hand, affected subjects from three FPLD pedigrees with heterozygous...	BeFree	20041886	Detail
0.362	Familial Partial Lipodystrophy, Type 2	Multisystem dystrophy syndrome due to novel missense mutations in the amino-term...	UNIPROT	12015247	Detail
0.134	Muscular Dystrophies, Limb-Girdle	Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mu...	BeFree	23746545	Detail
0.005	Metabolic syndrome X	We report on a 46-year-old female patient with a heterozygous p.R28W LMNA mutati...	BeFree	23746545	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.82C>G (p.Arg28Gly) AND Inborn genetic diseases	ClinVar	Detail
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G...	DisGeNET	Detail
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-...	DisGeNET	Detail
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.	DisGeNET	Detail
We report on a 46-year-old female patient with a heterozygous p.R28W LMNA mutation, who presented wi...	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: rs59914820 dbSNP
Genome: hg19
Position: chr1:156,084,791-156,084,791
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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