chr4:38828278:G>A Detail (hg38) (TLR6)

Information

Genome

Assembly Position
hg19 chr4:38,829,899-38,829,899 View the variant detail on this assembly version.
hg38 chr4:38,828,278-38,828,278

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000381950.2:c.1196C>T ENST00000381950.2:p.Thr399Met
ENST00000508254.6:c.1196C>T ENST00000508254.6:p.Thr399Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605403 OMIM
HGNC 16711 HGNC
Ensembl ENSG00000174130 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv16720741 TogoVar
COSMIC COSM1055159 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 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
Annotation

Annotations

DescrptionSourceLinks
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

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
rs138968705 dbSNP
Genome
hg38
Position
chr4:38,828,278-38,828,278
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs138968705
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121308
Allele Counts in All Race (ExAC)
15
Heterozygous Counts in All Race (ExAC)
15
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.236521911168266E-4
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