chr1:156115102:C>G 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	chr1:156,084,893-156,084,893 View the variant detail on this assembly version.
hg38	chr1:156,115,102-156,115,102

HGVS

LMNA

Type	Transcript	Protein
RefSeq	NM_001282626.1:c.184C>G	NP_001269555.1:p.Arg62Gly
	NM_170707.3:c.184C>G	NP_733821.1:p.Arg62Gly
	NM_001282625.1:c.184C>G	NP_001269554.1:p.Arg62Gly
	NM_005572.3:c.184C>G	NP_005563.1:p.Arg62Gly
Ensemble	ENST00000361308.9:c.184C>G	ENST00000361308.9:p.Arg62Gly
	ENST00000368299.7:c.184C>G	ENST00000368299.7:p.Arg62Gly
	ENST00000368300.9:c.184C>G	ENST00000368300.9:p.Arg62Gly
	ENST00000368301.6:c.184C>G	ENST00000368301.6:p.Arg62Gly
	ENST00000675667.1:c.184C>G	ENST00000675667.1:p.Arg62Gly
	ENST00000675939.1:c.184C>G	ENST00000675939.1:p.Arg62Gly
	ENST00000676385.2:c.184C>G	ENST00000676385.2:p.Arg62Gly
	ENST00000677389.1:c.184C>G	ENST00000677389.1:p.Arg62Gly
	ENST00000682650.1:c.184C>G	ENST00000682650.1:p.Arg62Gly
	ENST00000683032.1:c.184C>G	ENST00000683032.1:p.Arg62Gly

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	2022-06-29	criteria provided, single submitter	not provided	not provided unknown	Detail
Pathogenic	2023-06-27	criteria provided, multiple submitters, no conflicts	Familial partial lipodystrophy, Dunnigan type	germline	Detail
Pathogenic	2022-07-11	criteria provided, single submitter	Charcot-Marie-Tooth disease type 2	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	congestive heart failure	On the other hand, affected subjects from three FPLD pedigrees with heterozygous...	BeFree	20041886	Detail
0.362	Familial Partial Lipodystrophy, Type 2	Multisystem dystrophy syndrome due to novel missense mutations in the amino-term...	UNIPROT	12015247	Detail

Annotation

Annotations

Descrption	Source	Links
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) AND not provided	ClinVar	Detail
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) AND Familial partial lipodystrophy, Dunnigan type	ClinVar	Detail
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) AND Charcot-Marie-Tooth disease type 2	ClinVar	Detail
On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G...	DisGeNET	Detail
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-...	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: rs56793579 dbSNP
Genome: hg38
Position: chr1:156,115,102-156,115,102
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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