chr9:122381694:C>A Detail (hg38) (PTGS1)

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

Genome

Assembly	Position
hg19	chr9:125,143,973-125,143,973 View the variant detail on this assembly version.
hg38	chr9:122,381,694-122,381,694

HGVS

PTGS1

Type	Transcript	Protein
RefSeq	NM_000962.3:c.709C>A	NP_000953.2:p.Leu237Met
	NM_001271367.1:c.709C>A	NP_001258296.1:p.Leu237Met
	NM_080591.2:c.709C>A	NP_542158.1:p.Leu237Met
	NM_001271165.1:c.382C>A	NP_001258094.1:p.Leu128Met
	NM_001271166.1:c.634C>A	NP_001258095.1:p.Leu212Met
	NM_001271368.1:c.634C>A	NP_001258297.1:p.Leu212Met
Ensemble	ENST00000223423.8:c.709C>A	ENST00000223423.8:p.Leu237Met
	ENST00000362012.7:c.709C>A	ENST00000362012.7:p.Leu237Met
	ENST00000373698.7:c.382C>A	ENST00000373698.7:p.Leu128Met
	ENST00000540753.6:c.634C>A	ENST00000540753.6:p.Leu212Met
	ENST00000619306.5:c.565C>A	ENST00000619306.5:p.Leu189Met

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

PTGS1

Type	Database	ID	Link
Gene	MIM	176805	OMIM
	HGNC	9604	HGNC
	Ensembl	ENSG00000095303	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv364607578	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
0.002	Rectal Carcinoma	Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR...	BeFree	25304949	Detail
<0.001	Rectal Carcinoma	Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR...	BeFree	25304949	Detail
<0.001	Rectal Carcinoma	Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR...	BeFree	25304949	Detail
<0.001	Rectal Carcinoma	Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR...	BeFree	25304949	Detail

Annotation

Annotations

Descrption	Source	Links
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ...	DisGeNET	Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ...	DisGeNET	Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ...	DisGeNET	Detail
Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ...	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: chr9:122,381,694-122,381,694
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8638
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 120738
Allele Counts in All Race (ExAC): 2127
Heterozygous Counts in All Race (ExAC): 2065
Homozygous Counts in All Race (ExAC): 31
Allele Frequency in All Race (ExAC): 0.017616657556030414

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