chr12:96194375:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:96,588,153-96,663,602 
hg38 chr12:96,194,375-96,269,824

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 cerebral palsy NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
<0.001 DiGeorge syndrome NA BeFree Detail
<0.001 disseminated intravascular coagulation NA BeFree Detail
<0.001 Drug abuse NA BeFree Detail
<0.001 Drug habituation NA BeFree Detail
<0.001 Galactosemias NA BeFree Detail
<0.001 chronic granulomatous disease NA BeFree Detail
<0.001 Von Hippel-Lindau syndrome NA BeFree Detail
<0.001 Hypertensive disease NA BeFree Detail
0.001 Lyme disease NA BeFree Detail
<0.001 multiple endocrine neoplasia type 1 NA BeFree Detail
<0.001 Mycoses NA BeFree Detail
0.001 Neoplasm Metastasis Among 46 total samples, UCHL1 expression at both the gene and protein level was ... BeFree 24854489 Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
0.003 Pancreatic Neoplasm NA LHGDN Detail
<0.001 panic disorder NA BeFree Detail
<0.001 periodontitis NA BeFree Detail
<0.001 Psychotic Disorders NA BeFree Detail
<0.001 Respiratory Tract Infections NA BeFree Detail
<0.001 schizophrenia NA BeFree Detail
<0.001 Seizures NA BeFree Detail
<0.001 Tachycardia NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Unipolar Depression NA BeFree Detail
<0.001 vasculitis NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Arterial thrombosis MPA's pro-thrombotic effects were prevented by mifepristone, while NET-A did not... BeFree 24923668 Detail
<0.001 Systemic candidiasis NA BeFree Detail
<0.001 Recurrent major depressive episodes Association study between 5-HT2A and NET gene polymorphisms and recurrent major ... BeFree 26051731 Detail
<0.001 Williams syndrome NA BeFree Detail
0.001 Neuroendocrine Tumors NA BeFree Detail
<0.001 Carcinoma of unknown primary NA BeFree Detail
<0.001 Shprintzen syndrome NA BeFree Detail
<0.001 Recurrent depression NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Sepsis NA BeFree Detail
<0.001 Classical galactosemia NA BeFree Detail
<0.001 Invasive Pulmonary Aspergillosis NA BeFree Detail
<0.001 Impaired cognition NA BeFree Detail
0.080 Chylothorax, congenital NA MGD Detail
<0.001 MRSA - Methicillin resistant Staphylococcus aureus infection NA BeFree Detail
<0.001 Infective vaginitis NA BeFree Detail
<0.001 Secondary malignant neoplasm of liver NA BeFree Detail
<0.001 Mood Disorders NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 breast carcinoma NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node Multivariate regression analysis showed that lymph node metastasis and high TERC... BeFree 26026117 Detail
<0.001 Gastric hyperplastic polyp GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gas... BeFree 25007176 Detail
<0.001 Transfusion related acute lung injury NA BeFree Detail
0.001 attention deficit hyperactivity disorder Association of norepinephrine transporter (NET, SLC6A2) genotype with ADHD-relat... BeFree 25724484 Detail
<0.001 major depressive disorder NA BeFree Detail
<0.001 Mild cognitive disorder NA BeFree Detail
<0.001 Adenocarcinoma of large intestine Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin... BeFree 25007176 Detail
<0.001 Well Differentiated Pancreatic Endocrine Tumor This study demonstrates that a blood-based multianalyte NET gene transcript meas... BeFree 26032155 Detail
0.120 Mammary Neoplasms NA CTD_human Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Invasive Candidiasis NA BeFree Detail
<0.001 Recurrent depression MPT analyses show significant associations of the norepinephrine transporter (NE... BeFree 18081710 Detail
<0.001 FRAGILE X TREMOR/ATAXIA SYNDROME NA BeFree Detail
<0.001 COGNITIVE FUNCTION 1, SOCIAL NA BeFree Detail
<0.001 PANIC DISORDER 1 NA BeFree Detail
<0.001 Executive dysfunction NA BeFree Detail
<0.001 Pancreatic islet cell tumors NA BeFree Detail
<0.001 Digestive System Neuroendocrine Tumor NA BeFree Detail
<0.001 Adenovirus Infections NA BeFree Detail
0.002 Alcoholic Intoxication, Chronic NA BeFree Detail
<0.001 Alzheimer's disease NA BeFree Detail
<0.001 anorexia nervosa NA BeFree Detail
<0.001 aspergillosis NA BeFree Detail
<0.001 Bacteremia NA BeFree Detail
<0.001 Behavior Disorders NA BeFree Detail
<0.001 bipolar disorder NA BeFree Detail
<0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 cutaneous candidiasis NA BeFree Detail
<0.001 oral candidiasis NA BeFree Detail
<0.001 Candidiasis of vagina NA BeFree Detail
<0.001 Carcinoid Tumor NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Among 46 total samples, UCHL1 expression at both the gene and protein level was significantly greate... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
MPA's pro-thrombotic effects were prevented by mifepristone, while NET-A did not affect arterial thr... DisGeNET Detail
NA DisGeNET Detail
Association study between 5-HT2A and NET gene polymorphisms and recurrent major depression disorder ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
Multivariate regression analysis showed that lymph node metastasis and high TERC expression were ind... DisGeNET Detail
GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps. DisGeNET Detail
NA DisGeNET Detail
Association of norepinephrine transporter (NET, SLC6A2) genotype with ADHD-related phenotypes: findi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-emb... DisGeNET Detail
This study demonstrates that a blood-based multianalyte NET gene transcript measurement of well-diff... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... DisGeNET Detail
NA DisGeNET Detail
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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
rs386510249 dbSNP
Genome
hg38
Position
chr12:96,194,375-96,269,824
Variant Type
snv
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