chr1:156105059: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	chr1:156,105,059-156,105,059
hg38	chr1:156,135,268-156,135,268 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001257374.2:c.556C>T	NP_001244303.1:p.Arg186Cys
	NM_170707.3:c.892C>T	NP_733821.1:p.Arg298Cys
	NM_001282626.1:c.892C>T	NP_001269555.1:p.Arg298Cys
	NM_001282624.1:c.649C>T	NP_001269553.1:p.Arg217Cys
	NM_001282625.1:c.892C>T	NP_001269554.1:p.Arg298Cys
	NM_005572.3:c.892C>T	NP_005563.1:p.Arg298Cys
Ensemble	ENST00000448611.6:c.556C>T	ENST00000448611.6:p.Arg186Cys
	ENST00000504687.7:c.334C>T	ENST00000504687.7:p.Arg112Cys
	ENST00000368300.9:c.892C>T	ENST00000368300.9:p.Arg298Cys
	ENST00000682650.1:c.892C>T	ENST00000682650.1:p.Arg298Cys
	ENST00000676385.2:c.892C>T	ENST00000676385.2:p.Arg298Cys
	ENST00000368299.7:c.892C>T	ENST00000368299.7:p.Arg298Cys
	ENST00000473598.6:c.595C>T	ENST00000473598.6:p.Arg199Cys
	ENST00000368297.5:c.649C>T	ENST00000368297.5:p.Arg217Cys
	ENST00000675667.1:c.892C>T	ENST00000675667.1:p.Arg298Cys
	ENST00000368301.6:c.892C>T	ENST00000368301.6:p.Arg298Cys
	ENST00000361308.9:c.892C>T	ENST00000361308.9:p.Arg298Cys
	ENST00000683032.1:c.892C>T	ENST00000683032.1:p.Arg298Cys
	ENST00000675939.1:c.892C>T	ENST00000675939.1:p.Arg298Cys
	ENST00000677389.1:c.892C>T	ENST00000677389.1:p.Arg298Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM1668048	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-12-20	criteria provided, multiple submitters, no conflicts	Charcot-Marie-Tooth disease type 2B1	germline unknown	Detail
Pathogenic	2023-02-17	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2024-01-21	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2018-03-02	criteria provided, single submitter	Autosomal recessive axonal hereditary motor and sensory neuropathy	germline	Detail
Pathogenic	2019-05-28	criteria provided, single submitter	Hutchinson-Gilford syndrome	unknown	Detail
Uncertain significance	2023-05-15	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2020-12-17	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Pathogenic	2022-11-22	criteria provided, single submitter		germline	Detail
Uncertain significance	2024-02-05	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Charcot-Marie-Tooth disease	NA	CLINVAR		Detail
0.130	Charcot-Marie-Tooth disease	Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease...	BeFree	14607793	Detail
0.560	Charcot-Marie-Tooth disease, Type 2B1	NA	CLINVAR		Detail
0.130	Charcot-Marie-Tooth disease	Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutati...	BeFree	18549403	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Charcot-Marie-Tooth disease type 2B1	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Autosomal recessive axonal hereditary motor and sensory...	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Hutchinson-Gilford syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) AND Primary dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mu...	DisGeNET	Detail
NA	DisGeNET	Detail
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associate...	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: rs59885338 dbSNP
Genome: hg19
Position: chr1:156,105,059-156,105,059
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8494
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117084
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.270438317788938E-5

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