chr1:156134976:G>A 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	chr1:156,104,767-156,104,767 View the variant detail on this assembly version.
hg38	chr1:156,134,976-156,134,976

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.567+1G>A
	NM_001282626.1:c.810+1G>A
	NM_170707.3:c.810+1G>A
	NM_001282625.1:c.810+1G>A
	NM_005572.3:c.810+1G>A
	NM_001257374.2:c.474+1G>A
Ensemble	ENST00000361308.9:c.810+1G>A
	ENST00000368297.5:c.567+1G>A
	ENST00000368299.7:c.810+1G>A
	ENST00000368300.9:c.810+1G>A
	ENST00000368301.6:c.810+1G>A
	ENST00000448611.6:c.474+1G>A
	ENST00000473598.6:c.513+1G>A
	ENST00000504687.7:c.252+1G>A
	ENST00000675667.1:c.810+1G>A
	ENST00000675939.1:c.810+1G>A
	ENST00000676385.2:c.810+1G>A
	ENST00000677389.1:c.810+1G>A
	ENST00000682650.1:c.810+1G>A
	ENST00000683032.1:c.810+1G>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Muscular dystrophy, congenital	germline	MGS000064 (TMGS000131)	Fumihiko Matsuda Ichizo Nishino	The Rare Disease Data Registry of Japan National Center of Neurology and Psychiatry

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2022-11-23	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	NA	CLINVAR		Detail
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail
0.483	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.810+1G>A AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.810+1G>A AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs267607632 dbSNP
Genome: hg38
Position: chr1:156,134,976-156,134,976
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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