chr3:119807356:G>A Detail (hg38) (NR1I2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:119,526,203-119,526,203 View the variant detail on this assembly version.
hg38	chr3:119,807,356-119,807,356

HGVS

NR1I2

Type	Transcript	Protein
RefSeq	NM_022002.2:c.223G>A	NP_071285.1:p.Gly75Arg
	NM_003889.3:c.106G>A	NP_003880.3:p.Gly36Arg
	NM_033013.2:c.106G>A	NP_148934.1:p.Gly36Arg
Ensemble	ENST00000337940.4:c.223G>A	ENST00000337940.4:p.Gly75Arg
	ENST00000393716.8:c.106G>A	ENST00000393716.8:p.Gly36Arg
	ENST00000466380.6:c.106G>A	ENST00000466380.6:p.Gly36Arg

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

NR1I2

Type	Database	ID	Link
Gene	MIM	603065	OMIM
	HGNC	7968	HGNC
	Ensembl	ENSG00000144852	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv320985978	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
0.007	Crohn Disease	Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit...	BeFree	21830270	Detail

Annotation

Annotations

Descrption	Source	Links
Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C...	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: hg38
Position: chr3:119,807,356-119,807,356
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121398
Allele Counts in All Race (ExAC): 1774
Heterozygous Counts in All Race (ExAC): 1736
Homozygous Counts in All Race (ExAC): 19
Allele Frequency in All Race (ExAC): 0.014613090825219525

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