chr1:156108404: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	chr1:156,108,404-156,108,404
hg38	chr1:156,138,613-156,138,613 View the variant detail on this assembly version.

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.1818+6C>T
	NM_170707.3:c.1824C>T	NP_733821.1:p.Gly608=
	NM_001257374.2:c.1488C>T	NP_001244303.1:p.Gly496=
Ensemble	ENST00000361308.9:c.1824C>T	ENST00000361308.9:p.Gly608=
	ENST00000368299.7:c.1818+6C>T
	ENST00000676385.2:c.1734C>T	ENST00000676385.2:p.Gly578=
	ENST00000504687.7:c.1266C>T	ENST00000504687.7:p.Gly422=
	ENST00000368300.9:c.1824C>T	ENST00000368300.9:p.Gly608=
	ENST00000682650.1:c.1734C>T	ENST00000682650.1:p.Gly578=
	ENST00000448611.6:c.1488C>T	ENST00000448611.6:p.Gly496=
	ENST00000675667.1:c.1824C>T	ENST00000675667.1:p.Gly608=
	ENST00000675939.1:c.1824C>T	ENST00000675939.1:p.Gly608=
	ENST00000473598.6:c.1527C>T	ENST00000473598.6:p.Gly509=
	ENST00000683032.1:c.1824C>T	ENST00000683032.1:p.Gly608=

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-09-01	criteria provided, multiple submitters, no conflicts	Hutchinson-Gilford syndrome	de novo germline unknown	Detail
Pathogenic	2021-05-26	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2018-02-15	criteria provided, single submitter	Hutchinson-Gilford syndrome,Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2018-02-15	criteria provided, single submitter	Hutchinson-Gilford syndrome,Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-10-08	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail
Pathogenic	2009-07-01	no assertion criteria provided	restrictive dermopathy 2	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.485	Mandibuloacral dysostosis	NA	CLINVAR		Detail
<0.001	Dissecting aneurysm of the thoracic aorta	To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p....	BeFree	25090270	Detail
0.627	progeria	A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a...	BeFree	25216752	Detail
0.627	progeria	In this study, we describe the development of a tissue-specific mouse model that...	BeFree	22893709	Detail
0.627	progeria	The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which acti...	BeFree	22079058	Detail
<0.001	Scaly skin	Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T,...	BeFree	24305605	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail
0.360	Lethal tight skin contracture syndrome (disorder)	NA	CLINVAR		Detail
0.627	progeria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Hutchinson-Gilford syndrome	ClinVar	Detail
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND multiple conditions	ClinVar	Detail
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) AND Restrictive dermopathy 2	ClinVar	Detail
NA	DisGeNET	Detail
To induce the expression of the most common HGPS mutation, LMNA c.1824C>T; p.G608G, in the vascul...	DisGeNET	Detail
A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of l...	DisGeNET	Detail
In this study, we describe the development of a tissue-specific mouse model that overexpresses the m...	DisGeNET	Detail
The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic spli...	DisGeNET	Detail
Overexpression of the most common progeroid lamin A mutation (LMNA c.1824C>T, p.G608G) during ski...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs58596362 dbSNP
Genome: hg19
Position: chr1:156,108,404-156,108,404
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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