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

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

CD14

Type	Transcript	Protein
RefSeq	NM_000591.3:c.1101G>T	NP_000582.1:p.Leu367=
Ensemble	ENST00000302014.11:c.1101G>T	ENST00000302014.11:p.Leu367=
	ENST00000498971.7:c.1101G>T	ENST00000498971.7:p.Leu367=
	ENST00000512545.2:c.1101G>T	ENST00000512545.2:p.Leu367=
	ENST00000519715.2:c.1101G>T	ENST00000519715.2:p.Leu367=

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
Review star	[No Data.]
Show details

Links

CD14

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
	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

Descrption	Source	Links
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: A
East Asian Chromosome Counts (ExAC): 8550
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): 111360
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.795977011494253E-5

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