chr16:55656513:C>T Detail (hg38) (SLC6A2)

Information

Genome

Assembly Position
hg19 chr16:55,690,425-55,690,425 View the variant detail on this assembly version.
hg38 chr16:55,656,513-55,656,513

HGVS

Type Transcript Protein
RefSeq NM_001172504.1:c.-182C>T
NM_001043.3:c.-182C>T
NM_001172501.1:c.-51-131C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.633
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 163970 OMIM
HGNC 11048 HGNC
Ensembl ENSG00000103546 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55585845 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.226 Cardiomyopathy, Dilated Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performe... BeFree 22664639 Detail
<0.001 Cardiomyopathy, Dilated Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performe... BeFree 22664639 Detail
0.005 Unipolar Depression Different combinations of T-182C and the G1287A polymorphisms of NET gene might ... BeFree 26061302 Detail
0.014 major depressive disorder Positive association between T-182C polymorphism in the norepinephrine transport... BeFree 15539861 Detail
0.005 Unipolar Depression Positive association between T-182C polymorphism in the norepinephrine transport... BeFree 15539861 Detail
0.014 major depressive disorder Different combinations of T-182C and the G1287A polymorphisms of NET gene might ... BeFree 26061302 Detail
0.005 Unipolar Depression Association between norepinephrine transporter T-182C polymorphism and major dep... BeFree 24374057 Detail
0.014 major depressive disorder Association between norepinephrine transporter T-182C polymorphism and major dep... BeFree 24374057 Detail
0.005 Unipolar Depression Association between major depressive disorder and the norepinephrine transporter... BeFree 23648227 Detail
0.014 major depressive disorder Association between major depressive disorder and the norepinephrine transporter... BeFree 23648227 Detail
<0.001 Recurrent depression MPT analyses show significant associations of the norepinephrine transporter (NE... BeFree 18081710 Detail
<0.001 Recurrent depression MPT analyses show significant associations of the norepinephrine transporter (NE... BeFree 18081710 Detail
<0.001 Recurrent depression MPT analyses show significant associations of the norepinephrine transporter (NE... BeFree 18081710 Detail
<0.001 Recurrent depression MPT analyses show significant associations of the norepinephrine transporter (NE... BeFree 18081710 Detail
Annotation

Annotations

DescrptionSourceLinks
Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients wit... DisGeNET Detail
Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients wit... DisGeNET Detail
Different combinations of T-182C and the G1287A polymorphisms of NET gene might increase morbidity r... DisGeNET Detail
Positive association between T-182C polymorphism in the norepinephrine transporter gene and suscepti... DisGeNET Detail
Positive association between T-182C polymorphism in the norepinephrine transporter gene and suscepti... DisGeNET Detail
Different combinations of T-182C and the G1287A polymorphisms of NET gene might increase morbidity r... DisGeNET Detail
Association between norepinephrine transporter T-182C polymorphism and major depressive disorder: a ... DisGeNET Detail
Association between norepinephrine transporter T-182C polymorphism and major depressive disorder: a ... DisGeNET Detail
Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182... DisGeNET Detail
Association between major depressive disorder and the norepinephrine transporter polymorphisms T-182... DisGeNET Detail
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... DisGeNET Detail
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... DisGeNET Detail
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... DisGeNET Detail
MPT analyses show significant associations of the norepinephrine transporter (NET, SLC6A2) -182 T/C ... 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
rs2242446 dbSNP
Genome
hg38
Position
chr16:55,656,513-55,656,513
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2242446
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6331
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10609
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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