chr4:38797857:A>G Detail (hg38) (TLR1)

Information

Genome

Assembly Position
hg19 chr4:38,799,478-38,799,478 View the variant detail on this assembly version.
hg38 chr4:38,797,857-38,797,857

HGVS

Type Transcript Protein
RefSeq NM_003263.3:c.975T>C NP_003254.2:p.Asn325=
Ensemble ENST00000308979.7:c.975T>C ENST00000308979.7:p.Asn325=
ENST00000502213.6:c.975T>C ENST00000502213.6:p.Asn325=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601194 OMIM
HGNC 11847 HGNC
Ensembl ENSG00000174125 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
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
rs370738284 dbSNP
Genome
hg38
Position
chr4:38,797,857-38,797,857
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser