chr6:3019881:G>C Detail (hg19) (NQO2)
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
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001290221.1:c.688G>C | NP_001277150.1:p.Gly230Arg |
NM_001318940.1:c.688G>C | NP_001305869.1:p.Gly230Arg | |
NM_001290222.1:c.574G>C | NP_001277151.1:p.Gly192Arg |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:0.002 | |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
---|---|---|
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
- C
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1201
- Mean of sample read depth (HGVD)
- 70.33
- Standard deviation of sample read depth (HGVD)
- 30.22
- Number of reference allele (HGVD)
- 2400
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 8.326394671107411E-4
- Gene Symbol (HGVD)
- NQO2
- 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))
- rs201753355
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0017
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 29
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser