NOS3 nitric oxide synthase 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 4 |
Benign | 0 | 102 |
Likely benign | 0 | 88 |
protective | 0 | 2 |
Uncertain significance | 0 | 120 |
Ranking
ClinVar | |
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0 |
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0 |
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34 |
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264 |
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6 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ECNOS |
SYNONYM | eNOS |
MIM | 163729 OMIM |
HGNC | HGNC:7876 HGNC |
Ensembl | ENSG00000164867 Ensembl |
AllianceGenome | HGNC:7876 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000297494.8 | hg38 | chr7 | 150,991,017 | 151,014,588 | 23,572 |
ENST00000484524.5 | hg38 | chr7 | 150,993,804 | 151,003,935 | 10,132 |
ENST00000461406.5 | hg38 | chr7 | 150,991,104 | 151,014,474 | 23,371 |
ENST00000467517.1 | hg38 | chr7 | 150,993,804 | 151,003,935 | 10,132 |
ENST00000297494.8 | hg19 | chr7 | 150,688,105 | 150,711,676 | 23,572 |
ENST00000461406.5 | hg19 | chr7 | 150,688,192 | 150,711,562 | 23,371 |
ENST00000467517.1 | hg19 | chr7 | 150,690,892 | 150,701,023 | 10,132 |
ENST00000484524.5 | hg19 | chr7 | 150,690,892 | 150,701,023 | 10,132 |
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