chr1:156114947:C>T Detail (hg38) (LMNA, LOC129931597)

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

Genome

Assembly	Position
hg19	chr1:156,084,738-156,084,738 View the variant detail on this assembly version.
hg38	chr1:156,114,947-156,114,947

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282625.1:c.29C>T	NP_001269554.1:p.Thr10Ile
	NM_005572.3:c.29C>T	NP_005563.1:p.Thr10Ile
	NM_001282626.1:c.29C>T	NP_001269555.1:p.Thr10Ile
	NM_170707.3:c.29C>T	NP_733821.1:p.Thr10Ile
Ensemble	ENST00000368301.6:c.29C>T	ENST00000368301.6:p.Thr10Ile
	ENST00000368299.7:c.29C>T	ENST00000368299.7:p.Thr10Ile
	ENST00000368300.9:c.29C>T	ENST00000368300.9:p.Thr10Ile
	ENST00000361308.9:c.29C>T	ENST00000361308.9:p.Thr10Ile
	ENST00000675667.1:c.29C>T	ENST00000675667.1:p.Thr10Ile
	ENST00000675939.1:c.29C>T	ENST00000675939.1:p.Thr10Ile
	ENST00000676385.2:c.29C>T	ENST00000676385.2:p.Thr10Ile
	ENST00000677389.1:c.29C>T	ENST00000677389.1:p.Thr10Ile
	ENST00000682650.1:c.29C>T	ENST00000682650.1:p.Thr10Ile
	ENST00000683032.1:c.29C>T	ENST00000683032.1:p.Thr10Ile

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		lipodystrophy, familial partial	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		lipodystrophy, congenital generalized	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		Lipodystrophy	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-08-01	no assertion criteria provided	dilated cardiomyopathy 1A	germline	Detail
Likely pathogenic	2016-01-27	criteria provided, single submitter	not provided	germline not provided	Detail
Likely pathogenic	2016-02-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Pathogenic	2016-03-15	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2017-10-04	no assertion criteria provided	lipodystrophy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.001	Lipoatrophy	Atypical generalized lipoatrophy and severe insulin resistance due to a heterozy...	BeFree	19169477	Detail
0.026	lipodystrophy	Atypical generalized lipoatrophy and severe insulin resistance due to a heterozy...	BeFree	19169477	Detail
0.443	Cardiomyopathy, Familial Idiopathic	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND Dilated cardiomyopathy 1A	ClinVar	Detail
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND Inborn genetic diseases	ClinVar	Detail
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) AND Lipodystrophy	ClinVar	Detail
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mut...	DisGeNET	Detail
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mut...	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: rs57077886 dbSNP
Genome: hg38
Position: chr1:156,114,947-156,114,947
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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