chr7:150690970:G>A Detail (hg19) (NOS3)

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

Genome

Assembly	Position
hg19	chr7:150,690,970-150,690,970
hg38	chr7:150,993,882-150,993,882 View the variant detail on this assembly version.

HGVS

NOS3

Type	Transcript	Protein
RefSeq	NM_000603.4:c.79G>A	NP_000594.2:p.Gly27Ser
	NM_001160109.1:c.79G>A	NP_001153581.1:p.Gly27Ser
	NM_001160110.1:c.79G>A	NP_001153582.1:p.Gly27Ser
	NM_001160111.1:c.79G>A	NP_001153583.1:p.Gly27Ser
Ensemble	ENST00000297494.8:c.79G>A	ENST00000297494.8:p.Gly27Ser
	ENST00000461406.5:c.-148-1321G>A
	ENST00000467517.1:c.79G>A	ENST00000467517.1:p.Gly27Ser
	ENST00000484524.5:c.79G>A	ENST00000484524.5:p.Gly27Ser

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

NOS3

Type	Database	ID	Link
Gene	MIM	163729	OMIM
	HGNC	7876	HGNC
	Ensembl	ENSG00000164867	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	Lesion of brain	In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors fo...	BeFree	15985593	Detail
<0.001	Lesion of brain	In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors fo...	BeFree	15985593	Detail

Annotation

Annotations

Descrption	Source	Links
In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors found that genotypes o...	DisGeNET	Detail
In 57 consecutive patients, 35% of whom had lesions on brain MRI, the authors found that genotypes o...	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: chr7:150,690,970-150,690,970
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 4606
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): 68358
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): 2.9257731355510693E-5

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