chr17:61562707:A>G Detail (hg19) (ACE)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:61,562,707-61,562,707
hg38	chr17:63,485,346-63,485,346 View the variant detail on this assembly version.

HGVS

ACE

Type	Transcript	Protein
RefSeq	NM_000789.3:c.2032A>G	NP_000780.1:p.Ile678Val
	NM_152830.2:c.310A>G	NP_690043.1:p.Ile104Val
	NM_001178057.1:c.310A>G	NP_001171528.1:p.Ile104Val
Ensemble	ENST00000290866.10:c.2032A>G	ENST00000290866.10:p.Ile678Val
	ENST00000428043.5:c.2032A>G	ENST00000428043.5:p.Ile678Val
	ENST00000290863.10:c.310A>G	ENST00000290863.10:p.Ile104Val
	ENST00000413513.7:c.310A>G	ENST00000413513.7:p.Ile104Val

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

ACE

Type	Database	ID	Link
Gene	MIM	106180	OMIM
	HGNC	2707	HGNC
	Ensembl	ENSG00000159640	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
0.002	borderline personality disorder	Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes...	BeFree	17726703	Detail
<0.001	bronchopulmonary dysplasia	Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes...	BeFree	17726703	Detail
0.001	bronchopulmonary dysplasia	Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes...	BeFree	17726703	Detail
<0.001	borderline personality disorder	Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes...	BeFree	17726703	Detail
0.009	bronchopulmonary dysplasia	Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhes...	BeFree	17726703	Detail

Annotation

Annotations

Descrption	Source	Links
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel...	DisGeNET	Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel...	DisGeNET	Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel...	DisGeNET	Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel...	DisGeNET	Detail
Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-sel...	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: chr17:61,562,707-61,562,707
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8646
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): 120862
Allele Counts in All Race (ExAC): 9
Heterozygous Counts in All Race (ExAC): 9
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 7.446509241945359E-5

Genome browser