chr1:156135314:T>C 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	chr1:156,105,105-156,105,105 View the variant detail on this assembly version.
hg38	chr1:156,135,314-156,135,314

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.693+2T>C
	NM_001282626.1:c.936+2T>C
	NM_170707.3:c.936+2T>C
	NM_001282625.1:c.936+2T>C
	NM_005572.3:c.936+2T>C
	NM_001257374.2:c.600+2T>C
Ensemble	ENST00000361308.9:c.936+2T>C
	ENST00000368297.5:c.693+2T>C
	ENST00000368299.7:c.936+2T>C
	ENST00000368300.9:c.936+2T>C
	ENST00000368301.6:c.936+2T>C
	ENST00000448611.6:c.600+2T>C
	ENST00000473598.6:c.639+2T>C
	ENST00000504687.7:c.378+2T>C
	ENST00000675667.1:c.936+2T>C
	ENST00000675939.1:c.936+2T>C
	ENST00000676385.2:c.936+2T>C
	ENST00000677389.1:c.936+2T>C
	ENST00000682650.1:c.936+2T>C
	ENST00000683032.1:c.936+2T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2019-05-28	criteria provided, single submitter	Hutchinson-Gilford syndrome	unknown	Detail
Likely pathogenic	2020-03-26	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2022-11-02	criteria provided, single submitter		germline	Detail
Likely pathogenic	2023-09-27	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.447	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.936+2T>C AND Hutchinson-Gilford syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.936+2T>C AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.936+2T>C AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.936+2T>C AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs797045011 dbSNP
Genome: hg38
Position: chr1:156,135,314-156,135,314
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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