BTF3 basic transcription factor 3
Clinical Significance
MGeND | ClinVar | |
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not provided | 1 | 0 |
Uncertain significance | 0 | 8 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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8 |
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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 | |||||
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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 | |||
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | BETA-NAC |
SYNONYM | BTF3a |
SYNONYM | BTF3b |
SYNONYM | NACB |
MIM | 602542 OMIM |
HGNC | HGNC:1125 HGNC |
Ensembl | ENSG00000145741 Ensembl |
AllianceGenome | HGNC:1125 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000380591.8 | hg38 | chr5 | 73,498,442 | 73,505,667 | 7,226 |
ENST00000678135.1 | hg38 | chr5 | 73,498,436 | 73,505,435 | 7,000 |
ENST00000335895.12 | hg38 | chr5 | 73,498,408 | 73,505,495 | 7,088 |
ENST00000677654.1 | hg38 | chr5 | 73,498,466 | 73,505,011 | 6,546 |
ENST00000335895.12 | hg19 | chr5 | 72,794,233 | 72,801,320 | 7,088 |
ENST00000678135.1 | hg19 | chr5 | 72,794,261 | 72,801,260 | 7,000 |
ENST00000380591.8 | hg19 | chr5 | 72,794,267 | 72,801,492 | 7,226 |
ENST00000677654.1 | hg19 | chr5 | 72,794,291 | 72,800,836 | 6,546 |
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