chr12:104659555:C>T Detail (hg19) (TXNRD1)

Information

Genome

Assembly Position
hg19 chr12:104,659,555-104,659,555
hg38 chr12:104,265,777-104,265,777 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000525566.6:c.304+7698C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601112 OMIM
HGNC 12437 HGNC
Ensembl ENSG00000198431 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
0.001 breast carcinoma Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.099 Malignant neoplasm of breast Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.019 breast carcinoma Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.009 Malignant neoplasm of breast Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.002 breast carcinoma Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.022 breast carcinoma Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.001 Malignant neoplasm of breast Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.102 Malignant neoplasm of breast Trends in the association between urinary ITC and breast cancer were more consis... BeFree 12873994 Detail
0.002 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Further, at least two studies now show that the inactivating NAD(P)H:quinone acc... BeFree 15967214 Detail
<0.001 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
0.012 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
0.011 Leukemia, Lymphocytic, Acute, L1 Further, at least two studies now show that the inactivating NAD(P)H:quinone acc... BeFree 15967214 Detail
0.003 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
<0.001 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
<0.001 leukemia Further, at least two studies now show that the inactivating NAD(P)H:quinone acc... BeFree 15967214 Detail
0.031 Leukemia, Lymphocytic, Acute, L1 Further, at least two studies now show that the inactivating NAD(P)H:quinone acc... BeFree 15967214 Detail
0.047 leukemia Further, at least two studies now show that the inactivating NAD(P)H:quinone acc... BeFree 15967214 Detail
0.124 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
0.002 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
<0.001 Non-small cell lung carcinoma The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (nu... BeFree 16157195 Detail
Annotation

Annotations

DescrptionSourceLinks
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
Trends in the association between urinary ITC and breast cancer were more consistent with homozygous... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase... DisGeNET Detail
Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase... DisGeNET Detail
Further, at least two studies now show that the inactivating NAD(P)H:quinone acceptor oxidoreductase... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... DisGeNET Detail
The genotypes at polymorphic sites of the glutathione S-transferase (GST) M1 (null/wildtype) and P1 ... 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
rs368647662 dbSNP
Genome
hg19
Position
chr12:104,659,555-104,659,555
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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