chr14:77794283:T>C Detail (hg19) (GSTZ1)

Information

Genome

Assembly Position
hg19 chr14:77,794,283-77,794,283
hg38 chr14:77,327,940-77,327,940 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_145871.2:c.216+388T>C
NM_001312660.1:c.245T>C NP_001299589.1:p.Met82Thr
NM_145870.2:c.245T>C NP_665877.1:p.Met82Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.971
ToMMo:0.973
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.965

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 tgv51398880 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-10-30 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
0.013 Carcinoma of bladder Associations between THMs and bladder cancer were stronger among subjects who we... BeFree 20675267 Detail
0.093 Malignant neoplasm of urinary bladder Associations between THMs and bladder cancer were stronger among subjects who we... BeFree 20675267 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_145870.3(GSTZ1):c.245T>C (p.Met82Thr) AND not provided ClinVar Detail
NM_145870.3(GSTZ1):c.245T>C (p.Met82Thr) AND GSTZ1-related disorder ClinVar Detail
Associations between THMs and bladder cancer were stronger among subjects who were GSTT1 +/+ or +/- ... DisGeNET Detail
Associations between THMs and bladder cancer were stronger among subjects who were GSTT1 +/+ or +/- ... 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
hg19
Position
chr14:77,794,283-77,794,283
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
63.94
Standard deviation of sample read depth (HGVD)
29.80
Number of reference allele (HGVD)
70
Number of alternative allele (HGVD)
2344
Allele Frequency (HGVD)
0.9710024855012428
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))
rs1046428
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9729
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16305
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
8348
East Asian Heterozygous Counts (ExAC)
282
East Asian Homozygous Counts (ExAC)
4033
East Asian Allele Frequency (ExAC)
0.9653098982423681
Chromosome Counts in All Race (ExAC)
121214
Allele Counts in All Race (ExAC)
98938
Heterozygous Counts in All Race (ExAC)
17688
Homozygous Counts in All Race (ExAC)
40625
Allele Frequency in All Race (ExAC)
0.8162258484993482
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