chr8:18400593:G>A Detail (hg38) (NAT2)

Information

Genome

Assembly Position
hg19 chr8:18,258,103-18,258,103 View the variant detail on this assembly version.
hg38 chr8:18,400,593-18,400,593

HGVS

Type Transcript Protein
RefSeq NM_000015.2:c.590G>A NP_000006.2:p.Arg197Gln
Ensemble ENST00000286479.4:c.590G>A ENST00000286479.4:p.Arg197Gln
ENST00000520116.1:c.200G>A ENST00000520116.1:p.Arg67Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.188
ToMMo:0.196
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.250

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 612182 OMIM
HGNC 7646 HGNC
Ensembl ENSG00000156006 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv32333975 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2012-10-28 no assertion criteria provided germline Detail
Benign 2023-03-29 criteria provided, single submitter NAT2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.204 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
0.016 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
0.020 rheumatoid arthritis In this study, the six polymorphisms associated with rheumatoid arthritis (RA), ... BeFree 17985847 Detail
0.007 Malignant neoplasm of breast A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.003 breast carcinoma A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.007 breast carcinoma A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.017 Malignant neoplasm of breast A stratified analysis by menopausal status indicated the association between the... BeFree 20180013 Detail
0.018 Slow acetylator due to N-acetyltransferase enzyme variant We analyzed three NAT2 genetic variations, c.481C>T, c.590G>A (p.R197Q) an... BeFree 16571112 Detail
0.018 Slow acetylator due to N-acetyltransferase enzyme variant We investigated three genetic variations, c.481C>T, c.590G>A (p.R197Q) and... BeFree 16827944 Detail
0.056 Malignant neoplasm of lung [When numeric scores were assigned to both the SNP and demographic data, and seq... GAD 19789190 Detail
0.094 colorectal cancer We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
0.051 colorectal carcinoma We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
0.003 colorectal carcinoma We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
0.010 colorectal cancer We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
0.030 colorectal cancer We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
0.010 colorectal carcinoma We conducted a family-based case-control study to investigate the association be... BeFree 21618522 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) AND Slow acetylator due to N-acetyltransferase enzyme varia... ClinVar Detail
NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) AND NAT2-related disorder ClinVar Detail
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail
In this study, the six polymorphisms associated with rheumatoid arthritis (RA), N-acetyltransferase2... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
A stratified analysis by menopausal status indicated the association between the NAT2 SNP (rs1799930... DisGeNET Detail
We analyzed three NAT2 genetic variations, c.481C>T, c.590G>A (p.R197Q) and c.857G>A (p.G28... DisGeNET Detail
We investigated three genetic variations, c.481C>T, c.590G>A (p.R197Q) and c.857G>A (p.G286... DisGeNET Detail
[When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... DisGeNET Detail
We conducted a family-based case-control study to investigate the association between polymorphisms ... 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
rs1799930 dbSNP
Genome
hg38
Position
chr8:18,400,593-18,400,593
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
147.14
Standard deviation of sample read depth (HGVD)
71.55
Number of reference allele (HGVD)
1963
Number of alternative allele (HGVD)
455
Allele Frequency (HGVD)
0.1881720430107527
Gene Symbol (HGVD)
NAT2
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))
rs1799930
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1956
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3279
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
2162
East Asian Heterozygous Counts (ExAC)
1614
East Asian Homozygous Counts (ExAC)
274
East Asian Allele Frequency (ExAC)
0.2501156871818602
Chromosome Counts in All Race (ExAC)
121012
Allele Counts in All Race (ExAC)
33553
Heterozygous Counts in All Race (ExAC)
23767
Homozygous Counts in All Race (ExAC)
4893
Allele Frequency in All Race (ExAC)
0.27727002280765545
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