chr7:151007162:C>G Detail (hg38) (NOS3)

Information

Genome

Assembly Position
hg19 chr7:150,704,250-150,704,250 View the variant detail on this assembly version.
hg38 chr7:151,007,162-151,007,162

HGVS

Type Transcript Protein
RefSeq NM_000603.4:c.1998C>G NP_000594.2:p.Ala666=
Ensemble ENST00000297494.8:c.1998C>G ENST00000297494.8:p.Ala666=
ENST00000461406.5:c.1380C>G ENST00000461406.5:p.Ala460=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.424
ToMMo:0.451
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.364

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 tgv31481283 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Benign 2021-05-04 criteria provided, single submitter not provided germline Detail
Benign 2019-10-18 criteria provided, single submitter NOS3-related disorder 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.1998C>G (p.Ala666=) AND not specified ClinVar Detail
NM_000603.5(NOS3):c.1998C>G (p.Ala666=) AND not provided ClinVar Detail
NM_000603.5(NOS3):c.1998C>G (p.Ala666=) AND NOS3-related disorder 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
-
dbSNP
rs2566514 dbSNP
Genome
hg38
Position
chr7:151,007,162-151,007,162
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1172
Mean of sample read depth (HGVD)
71.96
Standard deviation of sample read depth (HGVD)
37.74
Number of reference allele (HGVD)
1348
Number of alternative allele (HGVD)
992
Allele Frequency (HGVD)
0.4239316239316239
Gene Symbol (HGVD)
NOS3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2566514
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4506
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7551
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
3126
East Asian Heterozygous Counts (ExAC)
1956
East Asian Homozygous Counts (ExAC)
585
East Asian Allele Frequency (ExAC)
0.3639115250291036
Chromosome Counts in All Race (ExAC)
120958
Allele Counts in All Race (ExAC)
41297
Heterozygous Counts in All Race (ExAC)
25195
Homozygous Counts in All Race (ExAC)
8051
Allele Frequency in All Race (ExAC)
0.3414160287041783
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