chr1:156106165:G>A Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,165-156,106,165
hg38 chr1:156,136,374-156,136,374 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001257374.2:c.982G>A NP_001244303.1:p.Val328Met
NM_170707.3:c.1318G>A NP_733821.1:p.Val440Met
NM_001282626.1:c.1318G>A NP_001269555.1:p.Val440Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 tgv3359151 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-11-01 no assertion criteria provided Mandibuloacral dysplasia with type A lipodystrophy, atypical germline Detail
Uncertain significance 2023-05-01 criteria provided, single submitter not provided germline not provided Detail
Pathogenic 2023-06-17 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Uncertain significance criteria provided, single submitter Charcot-Marie-Tooth disease germline Detail
Uncertain significance 2022-07-21 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2020-10-27 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-04-17 criteria provided, single submitter germline Detail
Uncertain significance 2023-11-30 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Acquired partial lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
0.026 lipodystrophy The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) a... BeFree 10999845 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Mandibuloacral dysplasia with type A lipodystrophy, at... ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND not specified ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) AND Primary dilated cardiomyopathy ClinVar Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... DisGeNET Detail
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and... 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
rs121912493 dbSNP
Genome
hg19
Position
chr1:156,106,165-156,106,165
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121912493
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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