chrX:12903659:A>T Detail (hg19) (TLR7)

Information

Genome

Assembly Position
hg19 chrX:12,903,659-12,903,659
hg38 chrX:12,885,540-12,885,540 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016562.3:c.32A>T NP_057646.1:p.Gln11Leu
Ensemble ENST00000380659.4:c.32A>T ENST00000380659.4:p.Gln11Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 300365 OMIM
HGNC 15631 HGNC
Ensembl ENSG00000196664 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
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
Benign 2024-01-24 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.098 Lupus Erythematosus, Systemic We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptib... BeFree 22065095 Detail
0.005 Virus Diseases Toll-like receptor 7 rs179008/Gln11Leu gene variants in chronic hepatitis C viru... BeFree 20872712 Detail
<0.001 IMMUNE SUPPRESSION Presence of the most frequent TLR7 polymorphism, TLR7 Gln11Leu, was associated w... BeFree 19114863 Detail
0.026 Lupus Erythematosus, Systemic We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptib... BeFree 22065095 Detail
<0.001 Hemorrhagic Fever, Crimean Toll-like receptor 7 Gln11Leu, c.4-151A/G, and +1817G/T polymorphisms in Crimean... BeFree 25879168 Detail
0.003 age related macular degeneration Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD ... BeFree 18385087 Detail
0.011 HIV Infections Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635... BeFree 24747071 Detail
0.010 HIV Infections Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635... BeFree 24747071 Detail
0.006 Hepatitis C, Chronic Toll-like receptor 7 rs179008/Gln11Leu gene variants in chronic hepatitis C viru... BeFree 20872712 Detail
0.012 age related macular degeneration Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD ... BeFree 18385087 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016562.4(TLR7):c.32A>T (p.Gln11Leu) AND not provided ClinVar Detail
NM_016562.4(TLR7):c.32A>T (p.Gln11Leu) AND not specified ClinVar Detail
We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptibility factors for wo... DisGeNET Detail
Toll-like receptor 7 rs179008/Gln11Leu gene variants in chronic hepatitis C virus infection. DisGeNET Detail
Presence of the most frequent TLR7 polymorphism, TLR7 Gln11Leu, was associated with higher viral loa... DisGeNET Detail
We suggest that TLR7 rs179008 and TLR9 rs5743836 can be considered SLE susceptibility factors for wo... DisGeNET Detail
Toll-like receptor 7 Gln11Leu, c.4-151A/G, and +1817G/T polymorphisms in Crimean Congo hemorrhagic f... DisGeNET Detail
Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.... DisGeNET Detail
Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher C... DisGeNET Detail
Association of single-nucleotide polymorphisms in TLR7 (Gln11Leu) and TLR9 (1635A/G) with a higher C... DisGeNET Detail
Toll-like receptor 7 rs179008/Gln11Leu gene variants in chronic hepatitis C virus infection. DisGeNET Detail
Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.... 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
chrX:12,903,659-12,903,659
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
6625
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.509433962264151E-4
Chromosome Counts in All Race (ExAC)
84503
Allele Counts in All Race (ExAC)
15217
Heterozygous Counts in All Race (ExAC)
7552
Homozygous Counts in All Race (ExAC)
987
Allele Frequency in All Race (ExAC)
0.18007644699004768
East Asian Hemizygous Counts (ExAC)
0
Hemizygous Counts in All Race (ExAC)
5691
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