chr1:156137210: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	chr1:156,107,001-156,107,001 View the variant detail on this assembly version.
hg38	chr1:156,137,210-156,137,210

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1343C>T	NP_001269553.1:p.Ala448Val
	NM_001282626.1:c.1586C>T	NP_001269555.1:p.Ala529Val
	NM_170707.3:c.1586C>T	NP_733821.1:p.Ala529Val
	NM_001282625.1:c.1586C>T	NP_001269554.1:p.Ala529Val
	NM_005572.3:c.1586C>T	NP_005563.1:p.Ala529Val
	NM_001257374.2:c.1250C>T	NP_001244303.1:p.Ala417Val
Ensemble	ENST00000361308.9:c.1586C>T	ENST00000361308.9:p.Ala529Val
	ENST00000368297.5:c.1343C>T	ENST00000368297.5:p.Ala448Val
	ENST00000368299.7:c.1586C>T	ENST00000368299.7:p.Ala529Val
	ENST00000368300.9:c.1586C>T	ENST00000368300.9:p.Ala529Val
	ENST00000368301.6:c.1586C>T	ENST00000368301.6:p.Ala529Val
	ENST00000448611.6:c.1250C>T	ENST00000448611.6:p.Ala417Val
	ENST00000473598.6:c.1289C>T	ENST00000473598.6:p.Ala430Val
	ENST00000504687.7:c.1028C>T	ENST00000504687.7:p.Ala343Val
	ENST00000675667.1:c.1586C>T	ENST00000675667.1:p.Ala529Val
	ENST00000675939.1:c.1586C>T	ENST00000675939.1:p.Ala529Val
	ENST00000676385.2:c.1586C>T	ENST00000676385.2:p.Ala529Val
	ENST00000677389.1:c.1586C>T	ENST00000677389.1:p.Ala529Val
	ENST00000682650.1:c.1586C>T	ENST00000682650.1:p.Ala529Val
	ENST00000683032.1:c.1586C>T	ENST00000683032.1:p.Ala529Val

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
Pathogenic	2005-09-01	no assertion criteria provided	Mandibuloacral dysplasia with type A lipodystrophy	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Uncertain significance	2021-12-21	criteria provided, single submitter		germline	Detail
Uncertain significance	2021-10-18	criteria provided, single submitter	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Likely pathogenic	2023-06-21	criteria provided, single submitter	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.485	Mandibuloacral dysostosis	NA	CLINVAR		Detail
0.485	Mandibuloacral dysostosis	A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacr...	BeFree	15998779	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Mandibuloacral dysplasia with type A lipodystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Cardiovascular phenotype	ClinVar	Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominan...	ClinVar	Detail
NA	DisGeNET	Detail
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.	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: rs60580541 dbSNP
Genome: hg38
Position: chr1:156,137,210-156,137,210
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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