chr1:156130688:C>T Detail (hg38) (LMNA, LOC126805877)

Information

Genome

Assembly Position
hg19 chr1:156,100,479-156,100,479 View the variant detail on this assembly version.
hg38 chr1:156,130,688-156,130,688

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.185C>T NP_001269553.1:p.Ser62Phe
NM_001282626.1:c.428C>T NP_001269555.1:p.Ser143Phe
NM_170707.3:c.428C>T NP_733821.1:p.Ser143Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic 2007-12-01 no assertion criteria provided congenital muscular dystrophy due to LMNA mutation germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) NA CLINVAR Detail
0.018 myopathy p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. BeFree 15622532 Detail
0.627 progeria p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. UNIPROT 15622532 Detail
<0.001 Fibrillation Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy an... BeFree 18339564 Detail
0.273 Muscular Dystrophy, Emery-Dreifuss We identified the underlying cause to be a hitherto unreported de novo missense ... BeFree 15622532 Detail
0.627 progeria The S143F lamin A/C point mutation causes a phenotype combining features of myop... BeFree 17881656 Detail
0.627 progeria We have carried out an analysis of the structural and functional consequences of... BeFree 25738644 Detail
0.018 myopathy The S143F lamin A/C point mutation causes a phenotype combining features of myop... BeFree 17881656 Detail
0.018 myopathy Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy an... BeFree 18339564 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe) AND Congenital muscular dystrophy due to LMNA mutation ClinVar Detail
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe) AND not provided ClinVar Detail
NA DisGeNET Detail
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. DisGeNET Detail
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. DisGeNET Detail
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillatio... DisGeNET Detail
We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA... DisGeNET Detail
The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. DisGeNET Detail
We have carried out an analysis of the structural and functional consequences of progeria-associated... DisGeNET Detail
The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. DisGeNET Detail
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillatio... 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
rs58912633 dbSNP
Genome
hg38
Position
chr1:156,130,688-156,130,688
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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