chr16:69714966:G>C Detail (hg38) (NQO1)

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

Genome

Assembly	Position
hg19	chr16:69,748,869-69,748,869 View the variant detail on this assembly version.
hg38	chr16:69,714,966-69,714,966

HGVS

NQO1

Type	Transcript	Protein
RefSeq	NM_000903.2:c.415C>G	NP_000894.1:p.Arg139Gly
	NM_001025434.1:c.304-1837C>G
	NM_001025433.1:c.415C>G	NP_001020604.1:p.Arg139Gly
	NM_001286137.1:c.415C>G	NP_001273066.1:p.Arg139Gly
Ensemble	ENST00000320623.10:c.415C>G	ENST00000320623.10:p.Arg139Gly
	ENST00000379046.6:c.304-1837C>G
	ENST00000379047.7:c.415C>G	ENST00000379047.7:p.Arg139Gly
	ENST00000439109.6:c.303+3157C>G
	ENST00000561500.5:c.304-1837C>G
	ENST00000564043.1:c.352C>G	ENST00000564043.1:p.Arg118Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

NQO1

Type	Database	ID	Link
Gene	MIM	125860	OMIM
	HGNC	2874	HGNC
	Ensembl	ENSG00000181019	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	Bladder Neoplasm	Patients with urinary bladder neoplasms who had been followed up for a 5-year pe...	BeFree	17469025	Detail
0.023	Bladder Neoplasm	Patients with urinary bladder neoplasms who had been followed up for a 5-year pe...	BeFree	17469025	Detail
0.133	Bladder Neoplasm	Patients with urinary bladder neoplasms who had been followed up for a 5-year pe...	BeFree	17469025	Detail
0.218	Bladder Neoplasm	Patients with urinary bladder neoplasms who had been followed up for a 5-year pe...	BeFree	17469025	Detail
0.154	Bladder Neoplasm	Patients with urinary bladder neoplasms who had been followed up for a 5-year pe...	BeFree	17469025	Detail

Annotation

Annotations

Descrption	Source	Links
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ...	DisGeNET	Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ...	DisGeNET	Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ...	DisGeNET	Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ...	DisGeNET	Detail
Patients with urinary bladder neoplasms who had been followed up for a 5-year period were genotyped ...	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: rs1131341 dbSNP
Genome: hg38
Position: chr16:69,714,966-69,714,966
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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