chr1:156100449:G>A Detail (hg19) (LMNA, LOC126805877)

Information

Genome

Assembly Position
hg19 chr1:156,100,449-156,100,449
hg38 chr1:156,130,658-156,130,658 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282625.1:c.398G>A NP_001269554.1:p.Arg133Gln
NM_005572.3:c.398G>A NP_005563.1:p.Arg133Gln
NM_001282624.1:c.155G>A NP_001269553.1:p.Arg52Gln
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
Show details
Links
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
Likely pathogenic 2023-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Lethal tight skin contracture syndrome germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Emery-Dreifuss muscular dystrophy 2, autosomal dominant germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Mandibuloacral dysplasia with type A lipodystrophy germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Emery-Dreifuss muscular dystrophy germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Charcot-Marie-Tooth disease type 2B1 germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter congenital muscular dystrophy due to LMNA mutation germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Familial partial lipodystrophy, Dunnigan type germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter Hutchinson-Gilford syndrome germline Detail
Uncertain significance 2018-01-12 criteria provided, single submitter dilated cardiomyopathy 1A germline Detail
Uncertain significance 2023-05-03 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2023-07-13 criteria provided, single submitter germline Detail
Uncertain significance 2023-10-02 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Familial Partial Lipodystrophy, Type 2 NA CLINVAR Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) NA CLINVAR Detail
0.130 Charcot-Marie-Tooth disease NA CLINVAR Detail
0.447 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscu... UNIPROT 11503164 Detail
<0.001 Dwarfism A heterozygous missense mutation substituting arginine at position 133 to leucin... BeFree 16174718 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Lethal tight skin contracture syndrome ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrop... ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Mandibuloacral dysplasia with type A lipodystrophy ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Emery-Dreifuss muscular dystrophy ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Charcot-Marie-Tooth disease type 2B1 ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Congenital muscular dystrophy due to LMNA mutation ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Familial partial lipodystrophy, Dunnigan type ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Hutchinson-Gilford syndrome ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Dilated cardiomyopathy 1A ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Primary dilated cardiomyopathy ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. DisGeNET Detail
A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C p... 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
rs60864230 dbSNP
Genome
hg19
Position
chr1:156,100,449-156,100,449
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser