chr1:156136359:C>T Detail (hg38) (LMNA)

Information

Genome

Assembly Position
hg19 chr1:156,106,150-156,106,150 View the variant detail on this assembly version.
hg38 chr1:156,136,359-156,136,359

HGVS

Type Transcript Protein
RefSeq NM_001282624.1:c.1060C>T NP_001269553.1:p.Arg354Cys
NM_001282626.1:c.1303C>T NP_001269555.1:p.Arg435Cys
NM_170707.3:c.1303C>T NP_733821.1:p.Arg435Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv3359143 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Uncertain significance 2023-09-04 criteria provided, multiple submitters, no conflicts Primary dilated cardiomyopathy germline Detail
Uncertain significance 2017-05-23 criteria provided, single submitter Hutchinson-Gilford syndrome germline Detail
Pathogenic 2023-11-19 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 2023-07-27 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2023-05-02 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.298 Cardiomyopathy, Dilated NA CLINVAR Detail
0.004 Cockayne syndrome Progeroid syndrome with scleroderma-like skin changes associated with homozygous... BeFree 19842191 Detail
0.443 Cardiomyopathy, Familial Idiopathic NA CLINVAR Detail
0.627 progeria NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND not provided ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Primary dilated cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Hutchinson-Gilford syndrome ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Charcot-Marie-Tooth disease type 2 ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Cardiomyopathy ClinVar Detail
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail
Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation... DisGeNET Detail
NA 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
rs150840924 dbSNP
Genome
hg38
Position
chr1:156,136,359-156,136,359
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8274
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
115898
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.628276588034307E-6
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