chr6:3019881:G>A 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>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 |
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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-26 | criteria provided, single submitter | not specified |
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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
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