BTN1A1 butyrophilin subfamily 1 member A1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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48 |
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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
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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 | BT |
| SYNONYM | BTN |
| SYNONYM | BTN1 |
| MIM | 601610 OMIM |
| HGNC | HGNC:1135 HGNC |
| Ensembl | ENSG00000124557 Ensembl |
| AllianceGenome | HGNC:1135 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000244513.10 | hg38 | chr6 | 26,501,221 | 26,510,422 | 9,202 |
| ENST00000684113.1 | hg38 | chr6 | 26,500,303 | 26,510,425 | 10,123 |
| ENST00000684113.1 | hg19 | chr6 | 26,500,531 | 26,510,653 | 10,123 |
| ENST00000244513.10 | hg19 | chr6 | 26,501,449 | 26,510,650 | 9,202 |
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