AEBP2 AE binding protein 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
62 |
 |
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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| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| MIM | 617934 OMIM |
| HGNC | HGNC:24051 HGNC |
| Ensembl | ENSG00000139154 Ensembl |
| AllianceGenome | HGNC:24051 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000266508.14 | hg38 | chr12 | 19,439,492 | 19,522,227 | 82,736 |
| ENST00000360995.8 | hg38 | chr12 | 19,440,581 | 19,520,223 | 79,643 |
| ENST00000541908.5 | hg38 | chr12 | 19,404,066 | 19,518,192 | 114,127 |
| ENST00000398864.7 | hg38 | chr12 | 19,439,674 | 19,522,239 | 82,566 |
| ENST00000673644.1 | hg38 | chr12 | 19,440,324 | 19,518,117 | 77,794 |
| ENST00000673824.1 | hg38 | chr12 | 19,462,526 | 19,518,114 | 55,589 |
| ENST00000541908.5 | hg19 | chr12 | 19,557,000 | 19,671,126 | 114,127 |
| ENST00000266508.14 | hg19 | chr12 | 19,592,426 | 19,675,161 | 82,736 |
| ENST00000398864.7 | hg19 | chr12 | 19,592,608 | 19,675,173 | 82,566 |
| ENST00000673644.1 | hg19 | chr12 | 19,593,258 | 19,671,051 | 77,794 |
| ENST00000360995.8 | hg19 | chr12 | 19,593,515 | 19,673,157 | 79,643 |
| ENST00000673824.1 | hg19 | chr12 | 19,615,460 | 19,671,048 | 55,589 |
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