chr10:104263031:C>A Detail (hg38) (GSTO1)

Information

Genome

Assembly Position
hg19 chr10:106,022,789-106,022,789 View the variant detail on this assembly version.
hg38 chr10:104,263,031-104,263,031

HGVS

Type Transcript Protein
RefSeq NM_001191002.1:c.367-3053C>A
NM_004832.2:c.419C>A NP_004823.1:p.Ala140Asp
NM_001191003.1:c.335C>A NP_001177932.1:p.Ala112Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.123
ToMMo:0.117
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.141

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605482 OMIM
HGNC 13312 HGNC
Ensembl ENSG00000148834 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40516317 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-17 criteria provided, single submitter GSTO1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant neoplasm of urinary bladder To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566... BeFree 25716313 Detail
<0.001 Carcinoma of bladder To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566... BeFree 25716313 Detail
<0.001 Carcinoma of bladder To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566... BeFree 25716313 Detail
<0.001 Malignant neoplasm of urinary bladder To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs1566... BeFree 25716313 Detail
0.005 Malignant neoplasm of urinary bladder To examine the association of six glutathione transferase (GST) gene polymorphis... BeFree 24040330 Detail
0.004 Carcinoma of bladder To examine the association of six glutathione transferase (GST) gene polymorphis... BeFree 24040330 Detail
0.003 Dementia, Vascular The Asp/Asp genotype of the Ala140Asp polymorphism of the GSTO1 gene has been al... BeFree 17717316 Detail
0.006 arteriosclerosis Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with... BeFree 17717316 Detail
0.120 Lung diseases The polymorphism A140D of GSTO1-1 has been not only associated with distinct uri... BeFree 22293942 Detail
<0.001 arteriosclerosis Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with... BeFree 17717316 Detail
0.005 atherosclerosis Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with... BeFree 17717316 Detail
0.011 atherosclerosis Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with... BeFree 17717316 Detail
<0.001 childhood leukemia The polymorphism A140D of GSTO1-1 has been not only associated with distinct uri... BeFree 22293942 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004832.3(GSTO1):c.419C>A (p.Ala140Asp) AND GSTO1-related disorder ClinVar Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su... DisGeNET Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su... DisGeNET Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su... DisGeNET Detail
To clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) in individual su... DisGeNET Detail
To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1... DisGeNET Detail
To examine the association of six glutathione transferase (GST) gene polymorphisms (GSTT1, GSTP1/rs1... DisGeNET Detail
The Asp/Asp genotype of the Ala140Asp polymorphism of the GSTO1 gene has been alleged to increase th... DisGeNET Detail
Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with cerebrovascular ath... DisGeNET Detail
The polymorphism A140D of GSTO1-1 has been not only associated with distinct urinary profile of arse... DisGeNET Detail
Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with cerebrovascular ath... DisGeNET Detail
Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with cerebrovascular ath... DisGeNET Detail
Association of the glutathione S-transferase omega-1 Ala140Asp polymorphism with cerebrovascular ath... DisGeNET Detail
The polymorphism A140D of GSTO1-1 has been not only associated with distinct urinary profile of arse... 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
chr10:104,263,031-104,263,031
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
39.32
Standard deviation of sample read depth (HGVD)
17.58
Number of reference allele (HGVD)
2111
Number of alternative allele (HGVD)
297
Allele Frequency (HGVD)
0.12333887043189369
Gene Symbol (HGVD)
GSTO1
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))
rs4925
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1166
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1954
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8586
East Asian Allele Counts (ExAC)
1210
East Asian Heterozygous Counts (ExAC)
1034
East Asian Homozygous Counts (ExAC)
88
East Asian Allele Frequency (ExAC)
0.1409270906126252
Chromosome Counts in All Race (ExAC)
120970
Allele Counts in All Race (ExAC)
30488
Heterozygous Counts in All Race (ExAC)
21936
Homozygous Counts in All Race (ExAC)
4276
Allele Frequency in All Race (ExAC)
0.25202942878399603
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