chr3:129167827:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr3:128,886,670-128,902,765 
hg38 chr3:129,167,827-129,183,922

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.002 Fatty Liver The main purpose of this study was to investigate whether LBP prevented fatty li... BeFree 25013763 Detail
0.002 Fatty Liver Alcohol induces fatty liver by increasing the ratio of reduced form of nicotinam... BeFree 25356030 Detail
0.002 fibromyalgia NA GAD Detail
<0.001 hyperglycemia NA BeFree Detail
<0.001 hyperinsulinism NA BeFree Detail
<0.001 Hyperlipidemia NA BeFree Detail
<0.001 Hypertensive disease NA BeFree Detail
<0.001 Leprosy, Lepromatous NA BeFree Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 lipodystrophy NA BeFree Detail
0.001 Liver neoplasms NA BeFree Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 muscular dystrophy NA BeFree Detail
0.139 Myotonic dystrophy Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expans... BeFree,CTD_human,GAD 24882752 Detail
0.139 Myotonic dystrophy Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n ... BeFree,CTD_human,GAD 24907641 Detail
0.139 Myotonic dystrophy Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the... BeFree,CTD_human,GAD 24938413 Detail
0.139 Myotonic dystrophy Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with... BeFree,CTD_human,GAD 25186227 Detail
0.139 Myotonic dystrophy Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP ge... BeFree,CTD_human,GAD 25443993 Detail
0.002 obesity NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 Hearing Loss, Mixed Conductive-Sensorineural NA BeFree Detail
<0.001 centronuclear myopathy NA BeFree Detail
<0.001 myotonic muscular dystrophy NA BeFree Detail
<0.001 Dyslipidemias NA BeFree Detail
<0.001 Autosomal dominant hereditary disorder Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with... BeFree 25186227 Detail
<0.001 Polygenic hypercholesterolemia NA BeFree Detail
<0.001 Blurred vision NA BeFree Detail
<0.001 Non-alcoholic Fatty Liver Disease Sterol regulatory element-binding protein (SREBP) 1, the master regulator of lip... BeFree 25634759 Detail
0.014 Congenital Myotonic Dystrophy Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expans... BeFree 24882752 Detail
0.014 Congenital Myotonic Dystrophy Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n ... BeFree 24907641 Detail
0.014 Congenital Myotonic Dystrophy Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the... BeFree 24938413 Detail
0.014 Congenital Myotonic Dystrophy Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with... BeFree 25186227 Detail
0.014 Congenital Myotonic Dystrophy Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP ge... BeFree 25443993 Detail
<0.001 Metabolic syndrome X NA BeFree Detail
0.005 Myotonic Disorders NA GAD,LHGDN Detail
<0.001 Multisystem disorder NA BeFree Detail
<0.001 Inclusion Body Myopathy, Sporadic NA BeFree Detail
<0.001 congenital structural myopathy NA BeFree Detail
<0.001 Endothelial dysfunction Endothelial dysfunction: the role of sterol regulatory element-binding protein-i... BeFree 25188917 Detail
<0.001 Eosinophilic myositis (disorder) Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP ge... BeFree 25443993 Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
0.001 liver carcinoma NA BeFree Detail
<0.001 Steatohepatitis NA BeFree Detail
0.003 Dystrophia myotonica 2 NA BeFree Detail
<0.001 Obesity, Visceral NA BeFree Detail
<0.001 aortic valve stenosis NA BeFree Detail
<0.001 arteriosclerosis Endothelial dysfunction: the role of sterol regulatory element-binding protein-i... BeFree 25188917 Detail
<0.001 atherosclerosis Endothelial dysfunction: the role of sterol regulatory element-binding protein-i... BeFree 25188917 Detail
<0.001 Malignant tumor of colon NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
The main purpose of this study was to investigate whether LBP prevented fatty liver through activati... DisGeNET Detail
Alcohol induces fatty liver by increasing the ratio of reduced form of nicotinamide adenine dinucleo... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while m... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in ... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the zinc-finger protein... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expa... DisGeNET Detail
Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation chara... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expa... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Sterol regulatory element-binding protein (SREBP) 1, the master regulator of lipogenesis, was shown ... DisGeNET Detail
Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while m... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in ... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is caused by an expansion of CCTG repeats in the zinc-finger protein... DisGeNET Detail
Myotonic dystrophy type 2 (DM2) is an autosomal dominant inherited disorder with (CCTG)n repeat expa... DisGeNET Detail
Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation chara... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Endothelial dysfunction: the role of sterol regulatory element-binding protein-induced NOD-like rece... DisGeNET Detail
Here, we report a patient with an 8 kb CCTG expansion in intron 1 of the CNBP gene, a mutation chara... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Endothelial dysfunction: the role of sterol regulatory element-binding protein-induced NOD-like rece... DisGeNET Detail
Endothelial dysfunction: the role of sterol regulatory element-binding protein-induced NOD-like rece... 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
-
Genome
hg38
Position
chr3:129,167,827-129,183,922
Variant Type
snv
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