chr2:211540486:A>C Detail (hg19) (CPS1)

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

Genome

Assembly	Position
hg19	chr2:211,540,486-211,540,486
hg38	chr2:210,675,762-210,675,762 View the variant detail on this assembly version.

HGVS

CPS1

Type	Transcript	Protein
RefSeq	NM_001875.4:c.4196A>C	NP_001866.2:p.Asn1399Thr
	NM_001122633.2:c.4214A>C	NP_001116105.1:p.Asn1405Thr
	NM_001122634.3:c.2843A>C	NP_001116106.1:p.Asn948Thr
Ensemble	ENST00000233072.10:c.4196A>C	ENST00000233072.10:p.Asn1399Thr
	ENST00000430249.7:c.4214A>C	ENST00000430249.7:p.Asn1405Thr
	ENST00000451903.3:c.2843A>C	ENST00000451903.3:p.Asn948Thr
	ENST00000673510.1:c.4196A>C	ENST00000673510.1:p.Asn1399Thr
	ENST00000673630.1:c.4196A>C	ENST00000673630.1:p.Asn1399Thr
	ENST00000673711.1:c.4196A>C	ENST00000673711.1:p.Asn1399Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

CPS1

Type	Database	ID	Link
Gene	MIM	608307	OMIM
	HGNC	2323	HGNC
	Ensembl	ENSG00000021826	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
0.120	VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO	NA	CLINVAR		Detail
0.120	Postherpetic neuralgia	NA	CLINVAR		Detail
0.006	Necrotizing Enterocolitis	These data suggest that the CPS1 T1405N polymorphism may be associated with the ...	BeFree	17597649	Detail
<0.001	Down syndrome	Unconditional logistic regression analysis of the modeling cohort revealed that ...	BeFree	17188582	Detail
0.003	pulmonary hypertension	A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previou...	BeFree	17188582	Detail
<0.001	Cardiac defects	In conclusion, the CPSI T1405N genotype appears to be an important new factor in...	BeFree	17188582	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
These data suggest that the CPS1 T1405N polymorphism may be associated with the risk of NEC in prete...	DisGeNET	Detail
Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01...	DisGeNET	Detail
A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previously been implicated ...	DisGeNET	Detail
In conclusion, the CPSI T1405N genotype appears to be an important new factor in predicting suscepti...	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: rs121912594 dbSNP
Genome: hg19
Position: chr2:211,540,486-211,540,486
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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