chr8:18400344:T>C Detail (hg38) (NAT2)

Information

Genome

Assembly Position
hg19 chr8:18,257,854-18,257,854 View the variant detail on this assembly version.
hg38 chr8:18,400,344-18,400,344

HGVS

Type Transcript Protein
RefSeq NM_000015.2:c.341T>C NP_000006.2:p.Ile114Thr
Ensemble ENST00000286479.4:c.341T>C ENST00000286479.4:p.Ile114Thr
ENST00000520116.1:c.-50T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.021
ToMMo:0.013
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.038

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 tgv32333917 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 2023-12-29 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
0.094 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_000015.2(NAT2):c.341T>C (p.Ile114Thr) AND Slow acetylator due to N-acetyltransferase enzyme varia... ClinVar Detail
NM_000015.2(NAT2):c.341T>C (p.Ile114Thr) 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
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
rs1801280 dbSNP
Genome
hg38
Position
chr8:18,400,344-18,400,344
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
196.60
Standard deviation of sample read depth (HGVD)
86.55
Number of reference allele (HGVD)
2369
Number of alternative allele (HGVD)
51
Allele Frequency (HGVD)
0.021074380165289255
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))
rs1801280
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0125
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
210
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
328
East Asian Heterozygous Counts (ExAC)
318
East Asian Homozygous Counts (ExAC)
5
East Asian Allele Frequency (ExAC)
0.037901548416917036
Chromosome Counts in All Race (ExAC)
121056
Allele Counts in All Race (ExAC)
46561
Heterozygous Counts in All Race (ExAC)
27141
Homozygous Counts in All Race (ExAC)
9710
Allele Frequency in All Race (ExAC)
0.3846236452550886
Genome browser