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

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

Type Transcript Protein
RefSeq NM_000903.2:c.415C>T NP_000894.1:p.Arg139Trp
NM_001025434.1:c.304-1837C>T
NM_001025433.1:c.415C>T NP_001020604.1:p.Arg139Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.017
ToMMo:0.025
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.024

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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 tgv55953336 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

DescrptionSourceLinks
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
-
Genome
hg38
Position
chr16:69,714,966-69,714,966
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
85.98
Standard deviation of sample read depth (HGVD)
45.16
Number of reference allele (HGVD)
2376
Number of alternative allele (HGVD)
42
Allele Frequency (HGVD)
0.017369727047146403
Gene Symbol (HGVD)
NQO1
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))
rs1131341
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0248
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
416
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
211
East Asian Heterozygous Counts (ExAC)
209
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.02442695068302848
Chromosome Counts in All Race (ExAC)
121150
Allele Counts in All Race (ExAC)
3971
Heterozygous Counts in All Race (ExAC)
3775
Homozygous Counts in All Race (ExAC)
98
Allele Frequency in All Race (ExAC)
0.032777548493602975
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