chr7:151009552:G>A Detail (hg38) (NOS3)

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

Information

Genome

Assembly	Position
hg19	chr7:150,706,640-150,706,640 View the variant detail on this assembly version.
hg38	chr7:151,009,552-151,009,552

HGVS

NOS3

Type	Transcript	Protein
RefSeq	NM_000603.4:c.2479G>A	NP_000594.2:p.Val827Met
Ensemble	ENST00000297494.8:c.2479G>A	ENST00000297494.8:p.Val827Met
	ENST00000461406.5:c.1861G>A	ENST00000461406.5:p.Val621Met

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	Benign
Review star
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	tgv353166883	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2023-04-01	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.015	Ischemic stroke	Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A t...	BeFree	24986538	Detail
0.007	Ischemic Cerebrovascular Accident	Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A t...	BeFree	24986538	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000603.5(NOS3):c.2479G>A (p.Val827Met) AND not provided	ClinVar	Detail
Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with...	DisGeNET	Detail
Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with...	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: chr7:151,009,552-151,009,552
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 208
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 10574
Allele Counts in All Race (ExAC): 52
Heterozygous Counts in All Race (ExAC): 52
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.004917722716096085

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