NOP10 NOP10 ribonucleoprotein
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 32 |
Likely benign | 0 | 38 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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28 |
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104 |
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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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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 |
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Target data | : |
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 | CHINE2 |
SYNONYM | DKCB1 |
SYNONYM | NOLA3 |
SYNONYM | NOP10P |
SYNONYM | PFBMFT9 |
MIM | 606471 OMIM |
HGNC | HGNC:14378 HGNC |
Ensembl | ENSG00000182117 Ensembl |
AllianceGenome | HGNC:14378 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000328848.6 | hg38 | chr15 | 34,341,719 | 34,343,136 | 1,418 |
ENST00000557912.2 | hg38 | chr15 | 34,341,717 | 34,343,176 | 1,460 |
ENST00000699926.1 | hg38 | chr15 | 34,341,285 | 34,343,180 | 1,896 |
ENST00000699934.1 | hg38 | chr15 | 34,339,159 | 34,343,124 | 3,966 |
ENST00000699935.1 | hg38 | chr15 | 34,341,716 | 34,343,100 | 1,385 |
ENST00000699936.1 | hg38 | chr15 | 34,341,716 | 34,343,136 | 1,421 |
ENST00000699937.1 | hg38 | chr15 | 34,341,719 | 34,343,138 | 1,420 |
ENST00000699938.1 | hg38 | chr15 | 34,341,719 | 34,343,153 | 1,435 |
ENST00000699934.1 | hg19 | chr15 | 34,631,360 | 34,635,325 | 3,966 |
ENST00000699926.1 | hg19 | chr15 | 34,633,486 | 34,635,381 | 1,896 |
ENST00000699935.1 | hg19 | chr15 | 34,633,917 | 34,635,301 | 1,385 |
ENST00000699936.1 | hg19 | chr15 | 34,633,917 | 34,635,337 | 1,421 |
ENST00000557912.2 | hg19 | chr15 | 34,633,918 | 34,635,377 | 1,460 |
ENST00000328848.6 | hg19 | chr15 | 34,633,920 | 34,635,337 | 1,418 |
ENST00000699937.1 | hg19 | chr15 | 34,633,920 | 34,635,339 | 1,420 |
ENST00000699938.1 | hg19 | chr15 | 34,633,920 | 34,635,354 | 1,435 |
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