BTN3A1 butyrophilin subfamily 3 member A1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 8 |
| not provided | 9 | 0 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
52 |
 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | BT3.1 |
| SYNONYM | BTF5 |
| SYNONYM | BTN3.1 |
| SYNONYM | CD277 |
| MIM | 613593 OMIM |
| HGNC | HGNC:1138 HGNC |
| Ensembl | ENSG00000026950 Ensembl |
| AllianceGenome | HGNC:1138 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000289361.11 | hg38 | chr6 | 26,402,275 | 26,415,208 | 12,934 |
| ENST00000414912.2 | hg38 | chr6 | 26,402,295 | 26,414,073 | 11,779 |
| ENST00000476549.6 | hg38 | chr6 | 26,402,237 | 26,413,246 | 11,010 |
| ENST00000425234.6 | hg38 | chr6 | 26,402,250 | 26,412,920 | 10,671 |
| ENST00000476549.6 | hg19 | chr6 | 26,402,465 | 26,413,474 | 11,010 |
| ENST00000425234.6 | hg19 | chr6 | 26,402,478 | 26,413,148 | 10,671 |
| ENST00000289361.11 | hg19 | chr6 | 26,402,503 | 26,415,436 | 12,934 |
| ENST00000414912.2 | hg19 | chr6 | 26,402,523 | 26,414,301 | 11,779 |
Genome browser