chr1:156104248:C>T Detail (hg19) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,104,248-156,104,248
hg38 chr1:156,134,457-156,134,457 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001282625.1:c.568C>T NP_001269554.1:p.Arg190Trp
NM_005572.3:c.568C>T NP_005563.1:p.Arg190Trp
NM_170707.3:c.568C>T NP_733821.1:p.Arg190Trp
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic DCM germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2016-05-01 no assertion criteria provided dilated cardiomyopathy 1S germline Detail
Pathogenic 2024-01-03 criteria provided, single submitter Charcot-Marie-Tooth disease type 2 germline Detail
Pathogenic 2023-08-15 criteria provided, single submitter germline Detail
Pathogenic 2024-01-12 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Pathogenic 2023-05-27 criteria provided, single submitter LMNA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.018 myopathy The p.R190W mutation has been reported in different populations and may therefor... BeFree 15539782 Detail
<0.001 Left Ventricular Hypertrophy We described an asymptomatic 28-year-old man with a R190W lamin A/C gene mutatio... BeFree 17442430 Detail
0.443 Cardiomyopathy, Familial Idiopathic Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A... UNIPROT 11897440 Detail
0.007 Familial dilated cardiomyopathy Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp)... BeFree 17334235 Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Cardiovascular phenotype ClinVar Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) AND LMNA-related disorder ClinVar Detail
The p.R190W mutation has been reported in different populations and may therefore be useful for anal... DisGeNET Detail
We described an asymptomatic 28-year-old man with a R190W lamin A/C gene mutation and mild left vent... DisGeNET Detail
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related di... DisGeNET Detail
Sequencing of the LMNA exons revealed one missense mutation at C568T (Arg190Trp) in the alpha-helica... DisGeNET 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
rs59026483 dbSNP
Genome
hg19
Position
chr1:156,104,248-156,104,248
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser