chr1:156104705:C>T 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	chr1:156,104,705-156,104,705
hg38	chr1:156,134,914-156,134,914 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.506C>T	NP_001269553.1:p.Ala169Val
	NM_001282625.1:c.749C>T	NP_001269554.1:p.Ala250Val
	NM_005572.3:c.749C>T	NP_005563.1:p.Ala250Val
	NM_170707.3:c.749C>T	NP_733821.1:p.Ala250Val
	NM_001257374.2:c.413C>T	NP_001244303.1:p.Ala138Val
	NM_001282626.1:c.749C>T	NP_001269555.1:p.Ala250Val
Ensemble	ENST00000368297.5:c.506C>T	ENST00000368297.5:p.Ala169Val
	ENST00000683032.1:c.749C>T	ENST00000683032.1:p.Ala250Val
	ENST00000473598.6:c.452C>T	ENST00000473598.6:p.Ala151Val
	ENST00000368301.6:c.749C>T	ENST00000368301.6:p.Ala250Val
	ENST00000677389.1:c.749C>T	ENST00000677389.1:p.Ala250Val
	ENST00000675939.1:c.749C>T	ENST00000675939.1:p.Ala250Val
	ENST00000675667.1:c.749C>T	ENST00000675667.1:p.Ala250Val
	ENST00000504687.7:c.191C>T	ENST00000504687.7:p.Ala64Val
	ENST00000368300.9:c.749C>T	ENST00000368300.9:p.Ala250Val
	ENST00000682650.1:c.749C>T	ENST00000682650.1:p.Ala250Val
	ENST00000676385.2:c.749C>T	ENST00000676385.2:p.Ala250Val
	ENST00000448611.6:c.413C>T	ENST00000448611.6:p.Ala138Val
	ENST00000368299.7:c.749C>T	ENST00000368299.7:p.Ala250Val
	ENST00000361308.9:c.749C>T	ENST00000361308.9:p.Ala250Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance Uncertain risk allele
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
Uncertain significance	2019-06-28	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2019-01-07	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-05-05	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	dilated cardiomyopathy 1A	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Mandibuloacral dysplasia with type A lipodystrophy	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Hutchinson-Gilford syndrome	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	congenital muscular dystrophy due to LMNA mutation	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1	germline	Detail
Uncertain significance	2018-01-12	criteria provided, single submitter	Lethal tight skin contracture syndrome	germline	Detail
Uncertain significance		criteria provided, single submitter	Charcot-Marie-Tooth disease	germline	Detail
Uncertain significance	2023-06-22	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2021-06-03	criteria provided, single submitter		germline	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance	2021-09-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2B1,Hutchinson-Gilford syndrome,Emery-Dreifuss muscular dystrophy 3, autosomal recessive,dilated cardiomyopathy 1A,Mandibuloacral dysplasia with type A lipodystrophy,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Emery-Dreifuss muscular dystrophy 2, autosomal dominant,Heart-hand syndrome, Slovenian type,Familial partial lipodystrophy, Dunnigan type,congenital muscular dystrophy due to LMNA mutation,restrictive dermopathy 2	unknown	Detail
Uncertain significance Uncertain risk allele	2023-08-15	criteria provided, multiple submitters, no conflicts	Primary dilated cardiomyopathy	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND not specified	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Mandibuloacral dysplasia with type A lipodystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Hutchinson-Gilford syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Congenital muscular dystrophy due to LMNA mutation	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrop...	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Emery-Dreifuss muscular dystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Charcot-Marie-Tooth disease type 2B1	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Lethal tight skin contracture syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Charcot-Marie-Tooth disease	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) AND Primary dilated cardiomyopathy	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: rs397517907 dbSNP
Genome: hg19
Position: chr1:156,104,705-156,104,705
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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