chr1:156137671:G>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	chr1:156,107,462-156,107,462 View the variant detail on this assembly version.
hg38	chr1:156,137,671-156,137,671

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282624.1:c.1383G>C	NP_001269553.1:p.Lys461Asn
	NM_001282626.1:c.1626G>C	NP_001269555.1:p.Lys542Asn
	NM_170707.3:c.1626G>C	NP_733821.1:p.Lys542Asn
	NM_001282625.1:c.1626G>C	NP_001269554.1:p.Lys542Asn
	NM_005572.3:c.1626G>C	NP_005563.1:p.Lys542Asn
	NM_001257374.2:c.1290G>C	NP_001244303.1:p.Lys430Asn
Ensemble	ENST00000361308.9:c.1626G>C	ENST00000361308.9:p.Lys542Asn
	ENST00000368297.5:c.1383G>C	ENST00000368297.5:p.Lys461Asn
	ENST00000368299.7:c.1626G>C	ENST00000368299.7:p.Lys542Asn
	ENST00000368300.9:c.1626G>C	ENST00000368300.9:p.Lys542Asn
	ENST00000368301.6:c.1626G>C	ENST00000368301.6:p.Lys542Asn
	ENST00000448611.6:c.1290G>C	ENST00000448611.6:p.Lys430Asn
	ENST00000473598.6:c.1329G>C	ENST00000473598.6:p.Lys443Asn
	ENST00000504687.7:c.1068G>C	ENST00000504687.7:p.Lys356Asn
	ENST00000675667.1:c.1626G>C	ENST00000675667.1:p.Lys542Asn
	ENST00000675939.1:c.1626G>C	ENST00000675939.1:p.Lys542Asn
	ENST00000676385.2:c.1608+439G>C
	ENST00000677389.1:c.1626G>C	ENST00000677389.1:p.Lys542Asn
	ENST00000682650.1:c.1608+439G>C
	ENST00000683032.1:c.1626G>C	ENST00000683032.1:p.Lys542Asn

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	2004-08-01	no assertion criteria provided	Mandibuloacral dysplasia with type A lipodystrophy	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.485	Mandibuloacral dysostosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) AND Mandibuloacral dysplasia with type A lipodystrophy	ClinVar	Detail
NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) AND not provided	ClinVar	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: rs56673169 dbSNP
Genome: hg38
Position: chr1:156,137,671-156,137,671
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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