CPXCR1 CPX chromosome region candidate 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 8 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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32 |
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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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| 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 | CT77 |
| MIM | 301055 OMIM |
| HGNC | HGNC:2332 HGNC |
| Ensembl | ENSG00000147183 Ensembl |
| AllianceGenome | HGNC:2332 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000373111.5 | hg38 | chrX | 88,747,235 | 88,754,780 | 7,546 |
| ENST00000276127.9 | hg38 | chrX | 88,747,225 | 88,754,781 | 7,557 |
| ENST00000614120.1 | hg38 | chrX | 88,749,318 | 88,754,785 | 5,468 |
| ENST00000276127.9 | hg19 | chrX | 88,002,226 | 88,009,782 | 7,557 |
| ENST00000373111.5 | hg19 | chrX | 88,002,236 | 88,009,781 | 7,546 |
| ENST00000614120.1 | hg19 | chrX | 88,004,319 | 88,009,786 | 5,468 |
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