chr1:156107024:G>A Detail (hg19) (LMNA)

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

Information

Genome

Assembly	Position
hg19	chr1:156,107,024-156,107,024
hg38	chr1:156,137,233-156,137,233 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1365+1G>A
	NM_001282625.1:c.1608+1G>A
	NM_005572.3:c.1608+1G>A
	NM_170707.3:c.1608+1G>A
	NM_001257374.2:c.1272+1G>A
	NM_001282626.1:c.1608+1G>A
Ensemble	ENST00000368297.5:c.1365+1G>A
	ENST00000473598.6:c.1311+1G>A
	ENST00000683032.1:c.1608+1G>A
	ENST00000677389.1:c.1608+1G>A
	ENST00000368301.6:c.1608+1G>A
	ENST00000675667.1:c.1608+1G>A
	ENST00000675939.1:c.1608+1G>A
	ENST00000676385.2:c.1608+1G>A
	ENST00000368300.9:c.1608+1G>A
	ENST00000682650.1:c.1608+1G>A
	ENST00000504687.7:c.1050+1G>A
	ENST00000448611.6:c.1272+1G>A
	ENST00000361308.9:c.1608+1G>A
	ENST00000368299.7:c.1608+1G>A

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	2014-09-10	criteria provided, single submitter	neuromuscular disease	germline	Detail
Pathogenic	2023-08-24	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2019-03-01	criteria provided, single submitter	dilated cardiomyopathy 1A	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail
Pathogenic	2022-05-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type,Hutchinson-Gilford syndrome,Charcot-Marie-Tooth disease type 2B1,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,restrictive dermopathy 2,Heart-hand syndrome, Slovenian type,congenital muscular dystrophy due to LMNA mutation,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail

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
NM_170707.4(LMNA):c.1608+1G>A AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND Neuromuscular disease	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1608+1G>A AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs267607592 dbSNP
Genome: hg19
Position: chr1:156,107,024-156,107,024
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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