RUNX3 RUNX family transcription factor 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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54 |
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0 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | AML2 |
| SYNONYM | CBFA3 |
| SYNONYM | PEBP2aC |
| MIM | 600210 OMIM |
| HGNC | HGNC:10473 HGNC |
| Ensembl | ENSG00000020633 Ensembl |
| AllianceGenome | HGNC:10473 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000338888.4 | hg38 | chr1 | 24,899,511 | 24,965,010 | 65,500 |
| ENST00000308873.11 | hg38 | chr1 | 24,899,511 | 24,930,276 | 30,766 |
| ENST00000399916.5 | hg38 | chr1 | 24,899,511 | 24,965,010 | 65,500 |
| ENST00000308873.11 | hg19 | chr1 | 25,226,002 | 25,256,767 | 30,766 |
| ENST00000338888.4 | hg19 | chr1 | 25,226,002 | 25,291,501 | 65,500 |
| ENST00000399916.5 | hg19 | chr1 | 25,226,002 | 25,291,501 | 65,500 |
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