chr1:156134513:GAA> Detail (hg38) (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	chr1:156,104,304-156,104,306
hg38	chr1:156,134,513-156,134,515

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.381_383delGAA	NP_001269553.1:p.Lys127del
	NM_001282626.1:c.624_626delGAA	NP_001269555.1:p.Lys208del
	NM_170707.3:c.624_626delGAA	NP_733821.1:p.Lys208del
	NM_001282625.1:c.624_626delGAA	NP_001269554.1:p.Lys208del
	NM_005572.3:c.624_626delGAA	NP_005563.1:p.Lys208del
	NM_001257374.2:c.288_290delGAA	NP_001244303.1:p.Lys96del
Ensemble	ENST00000361308.9:c.624_626delGAA	ENST00000361308.9:p.Lys208del
	ENST00000368297.5:c.381_383delGAA	ENST00000368297.5:p.Lys127del
	ENST00000368299.7:c.624_626delGAA	ENST00000368299.7:p.Lys208del
	ENST00000368300.9:c.624_626delGAA	ENST00000368300.9:p.Lys208del
	ENST00000368301.6:c.624_626delGAA	ENST00000368301.6:p.Lys208del
	ENST00000448611.6:c.288_290delGAA	ENST00000448611.6:p.Lys96del
	ENST00000473598.6:c.327_329delGAA	ENST00000473598.6:p.Lys109del
	ENST00000504687.7:c.66_68delGAA	ENST00000504687.7:p.Lys22del
	ENST00000675667.1:c.624_626delGAA	ENST00000675667.1:p.Lys208del
	ENST00000675939.1:c.624_626delGAA	ENST00000675939.1:p.Lys208del
	ENST00000676385.2:c.624_626delGAA	ENST00000676385.2:p.Lys208del
	ENST00000677389.1:c.624_626delGAA	ENST00000677389.1:p.Lys208del
	ENST00000682650.1:c.624_626delGAA	ENST00000682650.1:p.Lys208del
	ENST00000683032.1:c.624_626delGAA	ENST00000683032.1:p.Lys208del

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.483	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs267607540 dbSNP
Genome: hg38
Position: chr1:156,134,513-156,134,515
Variant Type: snv
Reference Allele: GAA
Alternative Allele: -

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