chr5:140011468:C>G Detail (hg19) (CD14)

Information

Genome

Assembly Position
hg19 chr5:140,011,468-140,011,468
hg38 chr5:140,631,883-140,631,883 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000591.3:c.1101G>C NP_000582.1:p.Leu367=
Ensemble ENST00000302014.11:c.1101G>C ENST00000302014.11:p.Leu367=
ENST00000498971.7:c.1101G>C ENST00000498971.7:p.Leu367=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.043
ToMMo:0.044
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.018

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 158120 OMIM
HGNC 1628 HGNC
Ensembl ENSG00000170458 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv22983095 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
0.001 Childhood asthma Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT ... BeFree 20398919 Detail
Annotation

Annotations

DescrptionSourceLinks
Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT or -260CT), and rs49... 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
chr5:140,011,468-140,011,468
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
60.07
Standard deviation of sample read depth (HGVD)
32.37
Number of reference allele (HGVD)
2316
Number of alternative allele (HGVD)
104
Allele Frequency (HGVD)
0.04297520661157025
Gene Symbol (HGVD)
CD14
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))
rs4914
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0437
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
732
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8550
East Asian Allele Counts (ExAC)
150
East Asian Heterozygous Counts (ExAC)
148
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.017543859649122806
Chromosome Counts in All Race (ExAC)
111360
Allele Counts in All Race (ExAC)
10911
Heterozygous Counts in All Race (ExAC)
9731
Homozygous Counts in All Race (ExAC)
590
Allele Frequency in All Race (ExAC)
0.09797952586206897
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