chr14:77326864:G>A Detail (hg38) (GSTZ1)

Information

Genome

Assembly Position
hg19 chr14:77,793,207-77,793,207 View the variant detail on this assembly version.
hg38 chr14:77,326,864-77,326,864

HGVS

Type Transcript Protein
RefSeq NM_001312660.1:c.94G>A NP_001299589.1:p.Glu32Lys
NM_145870.2:c.94G>A NP_665877.1:p.Glu32Lys
NM_145871.2:c.94G>A NP_665878.2:p.Glu32Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.523
ToMMo:0.520
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.505

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603758 OMIM
HGNC 4643 HGNC
Ensembl ENSG00000100577 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51398798 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-06-13 criteria provided, single submitter not provided germline Detail
Benign 2020-03-16 criteria provided, single submitter GSTZ1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of bladder Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... BeFree 22306368 Detail
<0.001 Carcinoma of bladder Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... BeFree 22306368 Detail
<0.001 Malignant neoplasm of urinary bladder Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... BeFree 22306368 Detail
0.003 Malignant neoplasm of urinary bladder Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=... BeFree 22306368 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_145870.3(GSTZ1):c.94G>A (p.Glu32Lys) AND not provided ClinVar Detail
NM_145870.3(GSTZ1):c.94G>A (p.Glu32Lys) AND GSTZ1-related disorder ClinVar Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... DisGeNET Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... DisGeNET Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... DisGeNET Detail
Bladder cancer risk overall was associated with GSTO2 Asn142Asp (homozygous; OR=1.4; 95% CI: 1.0-1.9... 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
rs7975 dbSNP
Genome
hg38
Position
chr14:77,326,864-77,326,864
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1047
Mean of sample read depth (HGVD)
21.29
Standard deviation of sample read depth (HGVD)
10.20
Number of reference allele (HGVD)
998
Number of alternative allele (HGVD)
1095
Allele Frequency (HGVD)
0.5231724796942189
Gene Symbol (HGVD)
GSTZ1
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))
rs7975
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.52
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8716
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7196
East Asian Allele Counts (ExAC)
3636
East Asian Heterozygous Counts (ExAC)
2006
East Asian Homozygous Counts (ExAC)
815
East Asian Allele Frequency (ExAC)
0.5052807115063924
Chromosome Counts in All Race (ExAC)
88310
Allele Counts in All Race (ExAC)
33098
Heterozygous Counts in All Race (ExAC)
22850
Homozygous Counts in All Race (ExAC)
5124
Allele Frequency in All Race (ExAC)
0.3747933416374137
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