BOLL boule homolog, RNA binding protein
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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24 |
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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
[No Data.]
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 |
Search Word
Target data | : |
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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Search word | : | |
Filtering | : |
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 | BOULE |
MIM | 606165 OMIM |
HGNC | HGNC:14273 HGNC |
Ensembl | ENSG00000152430 Ensembl |
AllianceGenome | HGNC:14273 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000321801.11 | hg38 | chr2 | 197,726,879 | 197,786,574 | 59,696 |
ENST00000392296.9 | hg38 | chr2 | 197,726,890 | 197,785,319 | 58,430 |
ENST00000696103.1 | hg38 | chr2 | 197,726,890 | 197,785,319 | 58,430 |
ENST00000433157.1 | hg38 | chr2 | 197,728,534 | 197,785,010 | 56,477 |
ENST00000282278.12 | hg38 | chr2 | 197,726,879 | 197,786,312 | 59,434 |
ENST00000430004.5 | hg38 | chr2 | 197,726,879 | 197,785,010 | 58,132 |
ENST00000430004.5 | hg19 | chr2 | 198,591,603 | 198,649,734 | 58,132 |
ENST00000282278.12 | hg19 | chr2 | 198,591,603 | 198,651,036 | 59,434 |
ENST00000321801.11 | hg19 | chr2 | 198,591,603 | 198,651,298 | 59,696 |
ENST00000696103.1 | hg19 | chr2 | 198,591,614 | 198,650,043 | 58,430 |
ENST00000392296.9 | hg19 | chr2 | 198,591,614 | 198,650,043 | 58,430 |
ENST00000433157.1 | hg19 | chr2 | 198,593,258 | 198,649,734 | 56,477 |
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