chr17:26089867:T>C Detail (hg19) (NOS2)

Information

Genome

Assembly Position
hg19 chr17:26,089,867-26,089,867
hg38 chr17:27,762,841-27,762,841 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000625.4:c.2757A>G NP_000616.3:p.Thr919=
Ensemble ENST00000697339.1:c.1719A>G ENST00000697339.1:p.Thr573=
ENST00000646938.1:c.2754A>G ENST00000646938.1:p.Thr918=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.779
ToMMo:0.768
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.745

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 163730 OMIM
HGNC 7873 HGNC
Ensembl ENSG00000007171 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57391076 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
Benign 2019-10-17 criteria provided, single submitter NOS2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
0.003 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
<0.001 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
<0.001 bronchiolitis SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093... BeFree 17703412 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000625.4(NOS2):c.2757A>G (p.Thr919=) AND not specified ClinVar Detail
NM_000625.4(NOS2):c.2757A>G (p.Thr919=) AND NOS2-related disorder ClinVar Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... DisGeNET Detail
SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212... 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
chr17:26,089,867-26,089,867
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1108
Mean of sample read depth (HGVD)
31.10
Standard deviation of sample read depth (HGVD)
12.57
Number of reference allele (HGVD)
488
Number of alternative allele (HGVD)
1722
Allele Frequency (HGVD)
0.779185520361991
Gene Symbol (HGVD)
NOS2
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))
rs1060826
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7683
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12877
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
2656
East Asian Allele Counts (ExAC)
1979
East Asian Heterozygous Counts (ExAC)
551
East Asian Homozygous Counts (ExAC)
714
East Asian Allele Frequency (ExAC)
0.745105421686747
Chromosome Counts in All Race (ExAC)
38294
Allele Counts in All Race (ExAC)
27721
Heterozygous Counts in All Race (ExAC)
8365
Homozygous Counts in All Race (ExAC)
9678
Allele Frequency in All Race (ExAC)
0.7238993053742101
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