NCF2 neutrophil cytosolic factor 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 84 |
Likely pathogenic | 0 | 38 |
Benign | 0 | 104 |
Likely benign | 0 | 558 |
Conflicting classifications of pathogenicity | 0 | 36 |
no classification for the single variant | 0 | 4 |
not provided | 0 | 22 |
Uncertain significance | 0 | 350 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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106 |
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998 |
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4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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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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MGeND data only
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 |
---|---|
SYNONYM | NCF-2 |
SYNONYM | NOXA2 |
SYNONYM | P67-PHOX |
SYNONYM | P67PHOX |
MIM | 608515 OMIM |
HGNC | HGNC:7661 HGNC |
Ensembl | ENSG00000116701 Ensembl |
AllianceGenome | HGNC:7661 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000697330.1 | hg38 | chr1 | 183,555,600 | 183,590,905 | 35,306 |
ENST00000418089.5 | hg38 | chr1 | 183,555,563 | 183,590,604 | 35,042 |
ENST00000697351.1 | hg38 | chr1 | 183,555,600 | 183,590,564 | 34,965 |
ENST00000413720.5 | hg38 | chr1 | 183,555,563 | 183,590,604 | 35,042 |
ENST00000367536.5 | hg38 | chr1 | 183,555,563 | 183,590,876 | 35,314 |
ENST00000367535.8 | hg38 | chr1 | 183,555,562 | 183,590,459 | 34,898 |
ENST00000367535.8 | hg19 | chr1 | 183,524,697 | 183,559,594 | 34,898 |
ENST00000413720.5 | hg19 | chr1 | 183,524,698 | 183,559,739 | 35,042 |
ENST00000418089.5 | hg19 | chr1 | 183,524,698 | 183,559,739 | 35,042 |
ENST00000367536.5 | hg19 | chr1 | 183,524,698 | 183,560,011 | 35,314 |
ENST00000697351.1 | hg19 | chr1 | 183,524,735 | 183,559,699 | 34,965 |
ENST00000697330.1 | hg19 | chr1 | 183,524,735 | 183,560,040 | 35,306 |
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