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

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

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
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

DescrptionSourceLinks
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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