NOS2 nitric oxide synthase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 40 |
Likely benign | 0 | 64 |
Uncertain significance | 0 | 136 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
22 |
![]() |
212 |
![]() |
2 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | HEP-NOS |
SYNONYM | INOS |
SYNONYM | NOS |
SYNONYM | NOS2A |
MIM | 163730 OMIM |
HGNC | HGNC:7873 HGNC |
Ensembl | ENSG00000007171 Ensembl |
AllianceGenome | HGNC:7873 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000697339.1 | hg38 | chr17 | 27,756,786 | 27,793,694 | 36,909 |
ENST00000646938.1 | hg38 | chr17 | 27,756,796 | 27,793,780 | 36,985 |
ENST00000313735.11 | hg38 | chr17 | 27,756,766 | 27,800,529 | 43,764 |
ENST00000313735.11 | hg19 | chr17 | 26,083,792 | 26,127,555 | 43,764 |
ENST00000697339.1 | hg19 | chr17 | 26,083,812 | 26,120,720 | 36,909 |
ENST00000646938.1 | hg19 | chr17 | 26,083,822 | 26,120,806 | 36,985 |
Genome browser