chr7:150704250:C>A Detail (hg19) (NOS3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:150,704,250-150,704,250 |
| hg38 | chr7:151,007,162-151,007,162 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000603.4:c.1998C>A | NP_000594.2:p.Ala666= |
| Ensemble | ENST00000297494.8:c.1998C>A | ENST00000297494.8:p.Ala666= |
| ENST00000461406.5:c.1380C>A | ENST00000461406.5:p.Ala460= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
|---|---|---|
| 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
- hg19
- Position
- chr7:150,704,250-150,704,250
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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)
- 1
- Allele Frequency (HGVD)
- 7.412898443291327E-4
- Gene Symbol (HGVD)
- NOS3
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- East Asian Chromosome Counts (ExAC)
- 8590
- East Asian Allele Counts (ExAC)
- 0
- Chromosome Counts in All Race (ExAC)
- 120958
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.267332462507647E-6
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