chr9:120475248:G>A Detail (hg19) (TLR4)

Information

Genome

Assembly Position
hg19 chr9:120,475,248-120,475,248
hg38 chr9:117,712,970-117,712,970 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_138554.4:c.842G>A NP_612564.1:p.Cys281Tyr
NM_003266.3:c.722G>A NP_003257.1:p.Cys241Tyr
Ensemble ENST00000355622.8:c.842G>A ENST00000355622.8:p.Cys281Tyr
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 not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 603030 OMIM
HGNC 11850 HGNC
Ensembl ENSG00000136869 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
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.170 Iron Overload Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9,... BeFree 19809335 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) AND not provided ClinVar Detail
Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9, and NOD2 polymorphi... 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
rs137853920 dbSNP
Genome
hg19
Position
chr9:120,475,248-120,475,248
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121274
Allele Counts in All Race (ExAC)
252
Heterozygous Counts in All Race (ExAC)
252
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0020779392120322576
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