chr11:126162843:C>T Detail (hg19) (TIRAP)

Information

Genome

Assembly Position
hg19 chr11:126,162,843-126,162,843
hg38 chr11:126,292,948-126,292,948 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318777.1:c.539C>T NP_001305706.1:p.Ser180Leu
NM_001039661.1:c.539C>T NP_001034750.1:p.Ser180Leu
NM_001318776.1:c.539C>T NP_001305705.1:p.Ser180Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.030
ToMMo:0.026
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.013

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606252 OMIM
HGNC 17192 HGNC
Ensembl ENSG00000150455 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44425560 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2008-03-01 no assertion criteria provided Invasive pneumococcal disease, protection against germline Detail
protective 2020-06-20 no assertion criteria provided Malaria, resistance to germline Detail
protective 2008-03-01 no assertion criteria provided Mycobacterium tuberculosis, protection against germline Detail
protective 2020-06-20 no assertion criteria provided Bacteremia, susceptibility germline Detail
Benign 2020-07-15 criteria provided, single submitter not provided germline Detail
Benign 2022-04-27 criteria provided, single submitter Malaria, susceptibility to,Bacteremia, susceptibility to, 1,Mycobacterium tuberculosis, susceptibility to unknown Detail
Benign 2022-04-27 criteria provided, single submitter Malaria, susceptibility to,Bacteremia, susceptibility to, 1,Mycobacterium tuberculosis, susceptibility to unknown Detail
Benign 2022-04-27 criteria provided, single submitter Malaria, susceptibility to,Bacteremia, susceptibility to, 1,Mycobacterium tuberculosis, susceptibility to unknown Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
<0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.012 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.002 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
<0.001 Tuberculosis, Pulmonary To evaluate the possible association between Toll-interleukin 1 receptor (TIR) d... BeFree 25066393 Detail
<0.001 Dengue Fever Results revealed significantly lower frequency of TLR3 rs3775291 T allele [DHF v... BeFree 25446400 Detail
<0.001 Chagas disease T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L varia... BeFree 19456234 Detail
<0.001 Spondylarthritis This study did not show significant associations of SNP S180L of the TLR2/4 adap... BeFree 18073264 Detail
<0.001 rheumatoid arthritis The Mal S180L and TLR4 G299D polymorphisms do not contribute to RA susceptibilit... BeFree 18180278 Detail
0.003 Chagas Cardiomyopathy Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor ... BeFree 19456234 Detail
0.121 malaria Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role ... BeFree 19602285 Detail
<0.001 Spondylarthritis This study did not show significant associations of SNP S180L of the TLR2/4 adap... BeFree 18073264 Detail
<0.001 Chagas disease T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L varia... BeFree 19456234 Detail
<0.001 Chronic Chagas' disease TLR1-I602S, TLR2-R753Q, TLR6-S249P, and MAL/TIRAP-S180L did not associate with C... BeFree 22302853 Detail
<0.001 Tuberculosis, Pulmonary The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resis... BeFree 24067789 Detail
0.006 Tuberculosis, Pulmonary The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resis... BeFree 24067789 Detail
0.006 Tuberculosis, Pulmonary TIRAP rs8177374 gene polymorphism increased the risk of pulmonary tuberculosis i... BeFree 25066393 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND Invasive pneumococcal disease, protection against ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND Malaria, resistance to ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND Mycobacterium tuberculosis, protection against ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND Bacteremia, susceptibility ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND not provided ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND multiple conditions ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND multiple conditions ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND multiple conditions ClinVar Detail
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) AND not specified ClinVar Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
To evaluate the possible association between Toll-interleukin 1 receptor (TIR) domain containing ada... DisGeNET Detail
Results revealed significantly lower frequency of TLR3 rs3775291 T allele [DHF vs. DF P = 0.015 odds... DisGeNET Detail
T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a d... DisGeNET Detail
This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP wi... DisGeNET Detail
The Mal S180L and TLR4 G299D polymorphisms do not contribute to RA susceptibility or severity either... DisGeNET Detail
Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor protein in the Toll-... DisGeNET Detail
Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, ... DisGeNET Detail
This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP wi... DisGeNET Detail
T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a d... DisGeNET Detail
TLR1-I602S, TLR2-R753Q, TLR6-S249P, and MAL/TIRAP-S180L did not associate with CD or CCC. DisGeNET Detail
The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmo... DisGeNET Detail
The MyD88 rs6853 and TIRAP rs8177374 polymorphic sites are associated with resistance to human pulmo... DisGeNET Detail
TIRAP rs8177374 gene polymorphism increased the risk of pulmonary tuberculosis in Zahedan, southeast... 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
rs8177374 dbSNP
Genome
hg19
Position
chr11:126,162,843-126,162,843
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
76.29
Standard deviation of sample read depth (HGVD)
36.96
Number of reference allele (HGVD)
2343
Number of alternative allele (HGVD)
73
Allele Frequency (HGVD)
0.030215231788079472
Gene Symbol (HGVD)
TIRAP
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))
rs8177374
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0264
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
443
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
111
East Asian Heterozygous Counts (ExAC)
111
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.012888992104040873
Chromosome Counts in All Race (ExAC)
119830
Allele Counts in All Race (ExAC)
15019
Heterozygous Counts in All Race (ExAC)
12793
Homozygous Counts in All Race (ExAC)
1113
Allele Frequency in All Race (ExAC)
0.1253358925143954
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