NME1 NME/NM23 nucleoside diphosphate kinase 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 8 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 4 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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12 |
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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
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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 |
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 | AWD |
SYNONYM | GAAD |
SYNONYM | NB |
SYNONYM | NBS |
SYNONYM | NDKA |
SYNONYM | NDPK-A |
SYNONYM | NDPKA |
SYNONYM | NM23 |
SYNONYM | NM23-H1 |
MIM | 156490 OMIM |
HGNC | HGNC:7849 HGNC |
Ensembl | ENSG00000239672 Ensembl |
AllianceGenome | HGNC:7849 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000393196.8 | hg38 | chr17 | 51,153,559 | 51,162,168 | 8,610 |
ENST00000511355.5 | hg38 | chr17 | 51,153,581 | 51,162,428 | 8,848 |
ENST00000013034.3 | hg38 | chr17 | 51,153,665 | 51,161,898 | 8,234 |
ENST00000480143.5 | hg38 | chr17 | 51,153,578 | 51,161,586 | 8,009 |
ENST00000336097.7 | hg38 | chr17 | 51,153,576 | 51,162,061 | 8,486 |
ENST00000393196.8 | hg19 | chr17 | 49,230,920 | 49,239,529 | 8,610 |
ENST00000336097.7 | hg19 | chr17 | 49,230,937 | 49,239,422 | 8,486 |
ENST00000480143.5 | hg19 | chr17 | 49,230,939 | 49,238,947 | 8,009 |
ENST00000511355.5 | hg19 | chr17 | 49,230,942 | 49,239,789 | 8,848 |
ENST00000013034.3 | hg19 | chr17 | 49,231,026 | 49,239,259 | 8,234 |
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