POU3F3 POU class 3 homeobox 3
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 30 |
Likely pathogenic | 0 | 48 |
Benign | 0 | 8 |
Likely benign | 0 | 36 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 146 |
Ranking
ClinVar | |
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0 |
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0 |
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14 |
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234 |
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16 |
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
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | BRN1 |
SYNONYM | OTF8 |
SYNONYM | SNIBFIS |
SYNONYM | brain-1 |
SYNONYM | oct-8 |
MIM | 602480 OMIM |
HGNC | HGNC:9216 HGNC |
Ensembl | ENSG00000198914 Ensembl |
AllianceGenome | HGNC:9216 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000674056.1 | hg38 | chr2 | 104,853,287 | 104,858,574 | 5,288 |
ENST00000361360.4 | hg38 | chr2 | 104,854,115 | 104,858,574 | 4,460 |
ENST00000674056.1 | hg19 | chr2 | 105,469,745 | 105,475,032 | 5,288 |
ENST00000361360.4 | hg19 | chr2 | 105,470,573 | 105,475,032 | 4,460 |
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