NUMA1 nuclear mitotic apparatus protein 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 34 |
Likely benign | 0 | 60 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 252 |
Ranking
ClinVar | |
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0 |
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0 |
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20 |
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318 |
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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
[No Data.]
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 |
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SYNONYM | NMP-22 |
SYNONYM | NUMA |
MIM | 164009 OMIM |
HGNC | HGNC:8059 HGNC |
Ensembl | ENSG00000137497 Ensembl |
AllianceGenome | HGNC:8059 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000613205.4 | hg38 | chr11 | 72,002,865 | 72,080,693 | 77,829 |
ENST00000351960.10 | hg38 | chr11 | 72,002,864 | 72,080,389 | 77,526 |
ENST00000620566.4 | hg38 | chr11 | 72,002,865 | 72,035,987 | 33,123 |
ENST00000358965.10 | hg38 | chr11 | 72,002,864 | 72,080,515 | 77,652 |
ENST00000393695.8 | hg38 | chr11 | 72,002,864 | 72,080,542 | 77,679 |
ENST00000351960.10 | hg19 | chr11 | 71,713,910 | 71,791,435 | 77,526 |
ENST00000358965.10 | hg19 | chr11 | 71,713,910 | 71,791,561 | 77,652 |
ENST00000393695.8 | hg19 | chr11 | 71,713,910 | 71,791,588 | 77,679 |
ENST00000613205.4 | hg19 | chr11 | 71,713,911 | 71,791,739 | 77,829 |
ENST00000620566.4 | hg19 | chr11 | 71,713,911 | 71,747,033 | 33,123 |
Key | Value |
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strand | - |
start | 71,713,909 |
Gene Symbol | NUMA1 |
Entrez GeneId | 4,926 |
Chr Band | 11q13 |
end | 71,791,738 |
chr | chr11 |
Name | nuclear mitotic apparatus protein 1 |
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