BTN2A1 butyrophilin subfamily 2 member A1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 14 |
| not provided | 26 | 0 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
92 |
 |
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
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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 | |||||||||||
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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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| 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 | BK14H9.1 |
| SYNONYM | BT2.1 |
| SYNONYM | BTF1 |
| SYNONYM | BTN2.1 |
| SYNONYM | DJ3E1.1 |
| MIM | 613590 OMIM |
| HGNC | HGNC:1136 HGNC |
| Ensembl | ENSG00000112763 Ensembl |
| AllianceGenome | HGNC:1136 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000429381.5 | hg38 | chr6 | 26,457,961 | 26,469,637 | 11,677 |
| ENST00000469185.5 | hg38 | chr6 | 26,457,968 | 26,476,621 | 18,654 |
| ENST00000541522.5 | hg38 | chr6 | 26,457,904 | 26,469,653 | 11,750 |
| ENST00000312541.10 | hg38 | chr6 | 26,457,955 | 26,469,637 | 11,683 |
| ENST00000541522.5 | hg19 | chr6 | 26,458,132 | 26,469,881 | 11,750 |
| ENST00000312541.10 | hg19 | chr6 | 26,458,183 | 26,469,865 | 11,683 |
| ENST00000429381.5 | hg19 | chr6 | 26,458,189 | 26,469,865 | 11,677 |
| ENST00000469185.5 | hg19 | chr6 | 26,458,196 | 26,476,849 | 18,654 |
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