chr1:156137207:C>T 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	chr1:156,106,998-156,106,998 View the variant detail on this assembly version.
hg38	chr1:156,137,207-156,137,207

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1340C>T	NP_001269553.1:p.Thr447Met
	NM_001282626.1:c.1583C>T	NP_001269555.1:p.Thr528Met
	NM_170707.3:c.1583C>T	NP_733821.1:p.Thr528Met
	NM_001282625.1:c.1583C>T	NP_001269554.1:p.Thr528Met
	NM_005572.3:c.1583C>T	NP_005563.1:p.Thr528Met
	NM_001257374.2:c.1247C>T	NP_001244303.1:p.Thr416Met
Ensemble	ENST00000361308.9:c.1583C>T	ENST00000361308.9:p.Thr528Met
	ENST00000368297.5:c.1340C>T	ENST00000368297.5:p.Thr447Met
	ENST00000368299.7:c.1583C>T	ENST00000368299.7:p.Thr528Met
	ENST00000368300.9:c.1583C>T	ENST00000368300.9:p.Thr528Met
	ENST00000368301.6:c.1583C>T	ENST00000368301.6:p.Thr528Met
	ENST00000448611.6:c.1247C>T	ENST00000448611.6:p.Thr416Met
	ENST00000473598.6:c.1286C>T	ENST00000473598.6:p.Thr429Met
	ENST00000504687.7:c.1025C>T	ENST00000504687.7:p.Thr342Met
	ENST00000675667.1:c.1583C>T	ENST00000675667.1:p.Thr528Met
	ENST00000675939.1:c.1583C>T	ENST00000675939.1:p.Thr528Met
	ENST00000676385.2:c.1583C>T	ENST00000676385.2:p.Thr528Met
	ENST00000677389.1:c.1583C>T	ENST00000677389.1:p.Thr528Met
	ENST00000682650.1:c.1583C>T	ENST00000682650.1:p.Thr528Met
	ENST00000683032.1:c.1583C>T	ENST00000683032.1:p.Thr528Met

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
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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
Uncertain significance	2016-11-03	criteria provided, single submitter	not provided	germline not provided	Detail
Uncertain significance	2020-03-12	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2023-12-01	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Likely pathogenic	2023-09-25	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) AND Cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) AND Cardiovascular phenotype	ClinVar	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: rs57629361 dbSNP
Genome: hg38
Position: chr1:156,137,207-156,137,207
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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