C6orf89 chromosome 6 open reading frame 89
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 5 | 0 |
| Uncertain significance | 0 | 4 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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6 |
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | BRAP |
| SYNONYM | PS1TP5TP1 |
| MIM | 616642 OMIM |
| HGNC | HGNC:21114 HGNC |
| Ensembl | ENSG00000198663 Ensembl |
| AllianceGenome | HGNC:21114 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000480824.7 | hg38 | chr6 | 36,885,952 | 36,928,964 | 43,013 |
| ENST00000355190.7 | hg38 | chr6 | 36,885,864 | 36,923,522 | 37,659 |
| ENST00000373685.1 | hg38 | chr6 | 36,885,864 | 36,923,522 | 37,659 |
| ENST00000359359.6 | hg38 | chr6 | 36,871,870 | 36,924,555 | 52,686 |
| ENST00000359359.6 | hg19 | chr6 | 36,839,646 | 36,892,331 | 52,686 |
| ENST00000355190.7 | hg19 | chr6 | 36,853,640 | 36,891,298 | 37,659 |
| ENST00000373685.1 | hg19 | chr6 | 36,853,640 | 36,891,298 | 37,659 |
| ENST00000480824.7 | hg19 | chr6 | 36,853,728 | 36,896,740 | 43,013 |
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