chr14:77793207:G>C Detail (hg19) (GSTZ1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

GSTZ1

Type	Transcript	Protein
RefSeq	NM_001312660.1:c.94G>C	NP_001299589.1:p.Glu32Gln
	NM_145870.2:c.94G>C	NP_665877.1:p.Glu32Gln
	NM_145871.2:c.94G>C	NP_665878.2:p.Glu32Gln
Ensemble	ENST00000216465.10:c.94G>C	ENST00000216465.10:p.Glu32Gln
	ENST00000557639.5:c.-72G>C
	ENST00000553586.5:c.97G>C	ENST00000553586.5:p.Glu33Gln
	ENST00000554279.5:c.94G>C	ENST00000554279.5:p.Glu32Gln
	ENST00000556627.5:c.94G>C	ENST00000556627.5:p.Glu32Gln
	ENST00000557053.5:c.-72G>C
	ENST00000361389.8:c.-72G>C
	ENST00000393734.5:c.-72G>C
	ENST00000349555.7:c.94G>C	ENST00000349555.7:p.Glu32Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.001
	ToMMo:[No Data.]
	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

GSTZ1

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	tgv51398799	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	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

Descrption	Source	Links
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: -
Genome: hg19
Position: chr14:77,793,207-77,793,207
Variant Type: snv
Reference Allele: G
Alternative Allele: C
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): 1
Allele Frequency (HGVD): 0.001001001001001001
Gene Symbol (HGVD): GSTZ1

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