chr6:3019881:G>A Detail (hg19) (NQO2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr6:3,019,881-3,019,881
hg38	chr6:3,019,647-3,019,647 View the variant detail on this assembly version.

HGVS

NQO2

Type	Transcript	Protein
RefSeq	NM_001290221.1:c.688G>A	NP_001277150.1:p.Gly230Arg
	NM_001318940.1:c.688G>A	NP_001305869.1:p.Gly230Arg
	NM_001290222.1:c.574G>A	NP_001277151.1:p.Gly192Arg
	NM_000904.4:c.688G>A	NP_000895.2:p.Gly230Arg
Ensemble	ENST00000338130.7:c.688G>A	ENST00000338130.7:p.Gly230Arg
	ENST00000380430.6:c.688G>A	ENST00000380430.6:p.Gly230Arg
	ENST00000380441.5:c.574G>A	ENST00000380441.5:p.Gly192Arg
	ENST00000380454.8:c.574G>A	ENST00000380454.8:p.Gly192Arg
	ENST00000380455.11:c.688G>A	ENST00000380455.11:p.Gly230Arg

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

NQO2

Type	Database	ID	Link
Gene	MIM	160998	OMIM
	HGNC	7856	HGNC
	Ensembl	ENSG00000124588	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2024-02-26	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	pancreatic carcinoma	According to the assumption that genetic variation in carcinogen metabolism furt...	BeFree	20966810	Detail
0.122	pancreatic carcinoma	According to the assumption that genetic variation in carcinogen metabolism furt...	BeFree	20966810	Detail
0.004	Malignant neoplasm of pancreas	According to the assumption that genetic variation in carcinogen metabolism furt...	BeFree	20966810	Detail
<0.001	Malignant neoplasm of pancreas	According to the assumption that genetic variation in carcinogen metabolism furt...	BeFree	20966810	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000904.6(NQO2):c.688G>A (p.Gly230Arg) AND not specified	ClinVar	Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris...	DisGeNET	Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris...	DisGeNET	Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris...	DisGeNET	Detail
According to the assumption that genetic variation in carcinogen metabolism further modifies the ris...	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: chr6:3,019,881-3,019,881
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8330
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.4009603841536616E-4
Chromosome Counts in All Race (ExAC): 116924
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.7105128117409598E-5

Genome browser