BTN3A2 butyrophilin subfamily 3 member A2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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40 |
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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
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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| 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 | BT3.2 |
| SYNONYM | BTF4 |
| SYNONYM | BTN3.2 |
| SYNONYM | CD277 |
| MIM | 613594 OMIM |
| HGNC | HGNC:1139 HGNC |
| Ensembl | ENSG00000186470 Ensembl |
| AllianceGenome | HGNC:1139 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000377708.7 | hg38 | chr6 | 26,365,198 | 26,378,312 | 13,115 |
| ENST00000396948.5 | hg38 | chr6 | 26,365,266 | 26,375,816 | 10,551 |
| ENST00000527422.5 | hg38 | chr6 | 26,365,231 | 26,375,737 | 10,507 |
| ENST00000396934.7 | hg38 | chr6 | 26,365,159 | 26,378,320 | 13,162 |
| ENST00000356386.6 | hg38 | chr6 | 26,365,231 | 26,378,318 | 13,088 |
| ENST00000508906.6 | hg38 | chr6 | 26,365,159 | 26,378,320 | 13,162 |
| ENST00000396934.7 | hg19 | chr6 | 26,365,387 | 26,378,548 | 13,162 |
| ENST00000508906.6 | hg19 | chr6 | 26,365,387 | 26,378,548 | 13,162 |
| ENST00000377708.7 | hg19 | chr6 | 26,365,426 | 26,378,540 | 13,115 |
| ENST00000356386.6 | hg19 | chr6 | 26,365,459 | 26,378,546 | 13,088 |
| ENST00000396948.5 | hg19 | chr6 | 26,365,494 | 26,376,044 | 10,551 |
| ENST00000527422.5 | hg19 | chr6 | 26,365,459 | 26,375,965 | 10,507 |
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